Foot Polydactyly and Polysyndactyly: Genetic Implications in Two Families

The purpose of this study was to determine the genetic characteristics of foot polydactyly and identify its inheritance pattern by analyzing familial pedigree. Five cases from 2 Korean families were studied: 1 is a family whose members have been affected for 4 generations and the other for 2 generations. Using peripheral blood samples, we performed chromosomal analysis using the banding technique with Giemsa stain and karyotyping. We investigated the shape and structure of 46 chromosomes, looking for translation, deletion, inversion, ring chromosome, and isochromosome abnormalities. All peripheral blood samples demonstrated no chromosomal abnormalities, though the genetic nature of foot polydactyly and a new genetic locus was identified recently by other studies. Familial pedigree analysis suggested that polydactyly was inherited as an autosomal dominant trait in the first family. The mode of inheritance for the second family could not be determined due to an insufficient number of family members. The result of this study brought us to the conclusion that, while genetic factors play a major role in polydactyly, other factors may contribute to its occurrence.     

回收式自体输血在儿童先天性髋关节脱位手术中的应用

[目的]探讨儿童先天性髋关节脱位的股骨和骨盆联合手术中洗涤式自体血液回收的应用方法与前景。[方法]2003年8月~2005年12月,17例先天性髋关节脱位股骨和骨盆联合手术中,使用Cell Saver 5血液回收系统行术中的血液回收。观察回输自体血液后的并发症发生情况,记录术中估计失血量、实际回收血量,以及回输血前后的Hb、Hct、P lt、PT、APTT、HR、BP、SPO2等的变化情况。[结果]17例患儿术中血液回收总量2 090 m l,平均每人(171±53)m l。其中4例出现一过性血红蛋白尿,其他无并发症。患者术前和术后24 h的Hb、Hct、HR比较差异有显著性意义(P<0.01);患者术前和术后24 h的P lt、PT、APTT、SPO2、BP比较差异无显著性意义(P>0.05)。[结论]儿童先天性髋关节脱位的股骨和骨盆联合手术中的血液回收是安全、有效的自体输血方式,明显节约异体血的用量,有效避免血液传播性疾病的发生。     

Personality traits of agreeableness and extraversion are associated with ADH4 variation.

BACKGROUND: Personality traits are associated with substance dependence (SD); genetic factors may influence both. Strong associations between ADH4 variation and SD have been reported. We aimed to investigate the relationship between ADH4 variation and personality traits in the present study. METHODS: We assessed dimensions of the five-factor model of personality in 243 subjects with SD (175 European Americans [EAs] and 68 African Americans [AAs]) and 296 healthy control subjects (256 EAs and 40 AAs). We also genotyped 7 ADH4 markers (spanning the locus) and 38 unlinked ancestry-informative markers in these subjects. The relationships between the diplotypes, alleles, and genotypes at ADH4 and personality traits were examined using multivariate analysis of covariance (MANCOVA), controlling for potential confounders. RESULTS: Generally, SD patients, older individuals, and male subjects scored higher on neuroticism and lower on other personality factors. Personality factors were associated with the diplotypes. The allele A or genotype A/A of single nucleotide polymorphism (SNP)6 (rs1800759 at the gene promoter) was significantly associated with agreeableness scores. There were associations between extraversion and SNP1 (hcv2033010 at the 3' end) and SNP2 (rs1042364 in exon 9) in subjects with higher conscientiousness scores. CONCLUSIONS: The personality traits of agreeableness and extraversion are related to ADH4 polymorphism. Among the ADH4 markers that appear to predispose to certain personality traits, the functional variant rs1800759 (SNP6) in the promoter region is most important. We conclude that personality traits and SD have a partially overlapping genetic basis.     

Cathodes for fuel cells using proton-conducting Li2SO4–Al2O3 electrolyte

The performances of three widely different cathode materials (Pt, strontium-doped lanthanum manganite (LSM), and NiO) have been compared for use with proton conducting Li₂SO₄–Al₂O₃ composite electrolyte, using H₂S–air and H₂–air fuel cells operating at 600 °C. Surface analysis and electrochemical techniques were used to characterize fresh and used electrode materials. Pt or LSM cathodes each became covered with Li₂SO₄ and Al₂O₃ and, as a consequence, the fuel cells showed poor performance. In contrast, the NiO cathode catalyst did not become covered with Li₂SO₄ and good fuel cell performance was achieved. Exceptionally good current densities of over 100 mA/cm² and power densities of over 30 mW/cm² were obtained for H₂S–air fuel cells having Mo–Ni–S anode catalysts. Slight agglomeration of NiO particles during fuel cell operation had only a minor effect on performance.     

Quantitative observation by enzyme cytochemistry of human rectal adenocarcinoma cells killed by LAK cells

Activity of succinic dehydrogenase(SDH)and acid phosphatase(AcPase)of effector-target cells during the process of LAK cells killing HR8348 cells was estimated by enzyme cyto-chemistry technique.SHD positive granules and AePase gray level were assayed with MIAS-300image analyser.The results showed:(1)After cocultivation of effector and target cells for vari-ous times,the activity of AcPase of HR8348 cells was apparently higher than that of the controlgroup,and it increased following prolonged coincubation.SDH activity of target cells increasedmarkedly within 30 and 60 rain cocultivation,but became low after 90 min treatment.(2)Ac-Pase content within LAK cells at 60,90,120,180 and 240 rain cocultivation was significantlyhigher than that of control group(P<0.01).The phenomenon of high AcPase and SDH activitywithin effector-target cells indicates that the function of the two types of cells was in an activestate.At the early stage of effector-target combining,the increase of SDH with HR8348 cellsmay be related to defensive function of the target cells.Higher AcPase activity of target cells in-dicates the activation of lysosomal enzyme which serves as the material basis for autolysis of thecells.     

反相高效液相色谱法测定洛氟沙星的血药浓度

采用反相ＨＰＬＣ法测定洛氟沙星的血药浓度，血浆样品用二氯甲烷在ｐＨ７．０条件下提取后进样，流动相为１０ｍ ｍｏｌ／Ｌ磷酸二氢钾－１０ｍ ｍｏｌ／Ｌ溴化四丁铵－乙腈－三乙胺（４５：４４：１０：１，磷酸调节ｐＨ２．８），紫外检测器λ＝２９５ｎｍ，最低检测浓度１０μｇ／Ｌ，线性范围：０．１￣６．０ｍｇ／Ｌ，ｒ＝０．９９９９，日内ＲＳＤ为１．３８％￣３．４２％，日间ＲＳＤ为１．１１％￣２．８９％。     

法半夏罗汉果川贝枇杷膏与强力枇杷露药理作用的比较研究

法半夏罗汉果川贝枇把膏与强力批他露均有镇咳祛痰作用，罗汉果川贝枇把膏尚能平喘抗炎。     

Clinical observations on 278 cases of cervical spondylopathy treated with electroacupuncture and massotherapy.

From Dec. 1990 to Dec. 1993, 278 cases of cervical spondylopathy were treated with electroacupuncture and massotherapy. The cure rate was 82.7%; but in the control group, it was only 61%, indicating that electroacupuncture may enhance the cure rate (P < 0.05). Of the 278 cases treated by three to five sessions, the pain and numbness disappeared in about 96% of the patients.     

Cardiokymograph system with a capacitance transducer and its preliminary application in the measurement of heart wall movement

A novel cardiokymograph system is introduced. The new system features a capacitance transducer with increased sensitivity and can be used in multichannel measurements. The novelty of this technique is the injection of a current into the patient coupled with the use of a capacitive displacement transducer and the possibility of multichannel monitoring. It provides for the possibility of removing breath noise when some signal processing technique, such as adaptive filtering, is used. Further investigation is needed to demonstrate clinical significance and pathologies.