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。     

心脏灌注磁共振成像的图像配准

医学时序图像的配准是医学图像分析诊断的基础，也是图像融合等图像处理需要先行解决的问题。本研究提出了一种新的基于图像分割和相关法的算法，用于准确、快速实现心脏灌注核磁共振成像(MRI)图像的配准。该方法以图像相关系数为目标函数，利用迭代运算确定心脏图像的水平位移、垂直位移和旋转角度等参数。该算法优点在于充分考虑了心肌灌注图像的特殊性以及被测对象的身体物理运动、生理运动。结果表明，此方法能有效地对心脏灌注磁共振图像进行配准处理。     

颈内动脉岩内段形态位置与毗邻结构的相关分析

目的:探讨颈内动脉岩内段形态位置变化的规律及其与毗邻结构的关系.方法:对66侧正常成人颅底高分辨率CT连续图像进行分析,测量颞骨气房体积,建立定位颈内动脉岩内段及其毗邻结构的参照系,对其位置和形态进行测量,运用偏相关分析方法求出它们形态位置的变化规律及其影响因素.结果:在男性,颈内动脉垂直段更偏外侧,其水平段长度也大于女性.颞骨气化好,则颈内动脉垂直段更偏后移.颈内动脉垂直段与颈静脉球的位置变化表现为同步.垂直段的内外移位相应地使水平段与中线的夹角发生变化.颈内动脉水平段的方位与蜗轴方向相关,蜗轴偏离中线的角度越小,则颈内动脉水平段偏离中线的角度越大,反之亦然.结论:影响颈内动脉岩内段形态位置变化的因素是复杂和多重的,包括性别因素、颅底发育状态、颞骨气化程度以及毗邻结构发育状态均可能是影响因素.     

FISH characterization of a supernumerary r(1)(::cen→q22::q22→sq21::) chromosome associated with multiple anomalies and bilateral cataracts

We describe the case of a 15‐year‐old girl with multiple congenital anomalies, dysmorphic features, severe kyphoscoliosis, growth and mental retardation, and the absence of speech, in whom 35% of the cells carried a supernumerary ring chromosome 1. Fluorescence in situ hybridization (FISH) analysis using YAC/BAC clones spanning the region from 1p13 to 1q21 made it possible to determine the genomic content and structure of the ring(1), which was found to consist of the cytogenetic bands 1q21–22. A complex structure was delineated in the ring chromosome with a partial inverted duplication delimited by markers WI‐7732 and WI‐607, with WI‐7396 and WI‐8386 being the boundaries of the single copy segment. Comparison of the clinical signs of other patients with mosaic r(1) reported in the literature allowed the identification of a patient sharing a number of clinical signs including cataracts. Given that mutations of the GJA8 gene encoding connexin 50 (Cx50) and mapping to 1q21 have been associated with the presence of cataracts, it is possible that a gain in copy number or a rearrangement of GJA8 may contribute to cataractogenesis.     

Limiting factors for cytopathological diagnosis of high-grade squamous intraepithelial lesions: a cytohistological correlation between findings in cervical smears and loop electrical excision procedure.

The present study sought possible factors leading to the cytological diagnosis of atypical squamous cells of uncertain significance (ASCUS) in cases of high-grade squamous intraepithelial lesions (HSIL). Based on retrospective histopathological analysis of loop electrical excision procedure (LEEP) products that diagnosed HSIL, two study groups were randomly selected. The first was consisted of cases with two consecutive Papanicolaou (Pap) smears with the diagnosis of ASCUS. The second (control) group was represented by cases diagnosed as HSIL by cytology. From the Pap smears diagnosed as ASCUS, the sampling limitations was different from control group (P < 0.05). The median size of the largest lesion in each case with ASCUS was 2.66 mm (+/- 1.71 mm). In the control group, the median size of the largest lesion was 5.15 mm (+/-2.58 mm) (P < 0.05). The size of the lesion and sample limitations led patients with cervical intraepithelial neoplasms to be diagnosed as ASCUS for two consecutive times, after a 6-mo period.     

Examination of the Diagnostic Value and Estimation of the Chaos Phenomenon in Temporomandibular Joint Sounds Using Fractal Dimension

.The aim of this study is to estimate the chaos phenomenon in temporomandibular joints (TMJ) sound using fractal dimension (FD), and to examine the diagnostic value of the FD in comparing TMJ sounds produced by 6 asymptomatic and 25 symptomatic TMJ. Multiple mandibular opening and closing cycles recorded were used to calculate the waveform dimension and correlation dimension in the FD. Chaos in the TMJ sounds was estimated by the FD that was saturated with some constant value to an increase of embedding dimension. Results reveal that fractal analysis produces a high degree of reproducibility within, and similarity across subjects, and indicate that both FD values of the asymptomatic TMJ sounds are significantly higher than those of the symptomatic. These findings suggest that chaos is present in TMJ sounds and the difference in the FD is of diagnostic value in evaluation of pathological change in TMJ sound signals.     

类金刚石薄膜的碳相成分对其血小板黏附特性的影响

对不同工艺和条件制备的 7个类金刚石薄膜 (Diamondlikecarbon ,DLC)试样 ,经X光电子能谱 (XPS)碳相成分分析后 ,分别进行了血小板黏附实验、黏附血小板的形貌观察、分类计数和形态指数计算 ,并通过灰色关联分析 ,研究了碳相成分对血小板黏附量、黏附血小板的形态指数的影响。结果显示 :来自全方位离子注入离子束增强沉积工艺的DLC ,其血小板黏附量和形态指数明显小于等离子体化学气相沉积工艺制备的样品 ;在DLC的 5种碳相成分中 ,DLC碳相与血小板黏附量和形态指数的 (负 )关联度远大于其它碳相成分 ,除此之外只有C H和C O碳相与血小板形态指数的 (正 )关联度较大。表明 :(1)DLC碳相对血小板黏附的影响远较其它碳相成分为大 ,增加DLC碳相的含量是优化DLC血液相容性的关键所在 ;(2 )C H和C O碳相对黏附血小板的变形有促进作用 ,须从工艺上抑制其产生或尽可能降低其含量 ;(3)采用全方位离子注入离子束增强沉积工艺有助于改善DLC的血液相容性。这些结论对设计与改进DLC的制备工艺具有重要的指导意义。