New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines

In the analysis of 40 CEPH families, under the EUROGEM project, with a total of 29 microsatellites (26 CA-repeats, a TCTA-repeat within the vWFII-3 gene, a TTA-repeat within the PLA-2 gene, and an AAAT-repeat intragenic to the NF1 gene) from human chromosomes 12, 17, and 21, we have detected 21 cases of abnormal segregation of alleles in 16 pedigrees for a total of 14 markers (48%). In 11 cases, the abnormal transmissions were of somatic origin, 10 of which (91%) occurred in the lymphoblastoid cell lines. In 9 other cases, it was not possible to determine if the origin of the new alleles was somatic or germline, and in one case hemizygosity in several family members was observed, so its origin was germline. The 20 new mutations detected in the 22,852 meioses analysed represent a mutation frequency of 8.7 × 10^?4 per locus per allele. The germline mutation rate could be as high as 3.9 × 10^?4 per locus per gamete (from 0 to 3.9 × 10^?4), but the rate of somatic mutations detected in the study was much higher (4.8 × 10^?4 to 8.7 × 10^?4 per locus per allele). Individual mutation rates ranged from 0 to 3.8 × 10^?3. Among the markers analysed, all three that were tri- or tetranucleotide repeats showed one or two new alleles, compared to only 10 of the 26 (38%) CA-repeats showing mutations. Three CEPH families (102, 45 and 1333) each had several mutational events, and one individual (10210) had somatic mutations for two microsatellites from different chromosomes. The mutation rate at microsatellite loci within families, using DNA directly obtained from cells from the individual, is less than 1 × 10^?4 (true germline mutation rate), which should not affect the use of these markers in diagnosis and linkage. However, these results and previous data suggest that for DNA obtained from cell lines, mutations are much more frequent (1 × 10^?2?1 × 10^?3). © 1994 Wiley-Liss, Inc.     

温州市农村贫困人群卫生服务需求和利用分析

通过对近2000份调查表的分析,评价温州市农村贫困人群在就诊过程中对医疗机构的选择、未就诊原因方面的特点,提出提高卫生服务利用的方法。     

高等中医药院校贫困生心理健康、防御方式和社会支持的相关分析

目的探讨不同心理健康状况的贫困大学生的防御方式和社会支持特点及其关系。方法采用防御方式问卷(DSQ)、社会支持评定量表、症状自评量表(SCL-90)对302名中医院校贫困大学生进行测评。结果贫困生的心理健康水平低于国内青年常模,但在人口学统计变量上的差异不显著;不同心理健康水平的学生的防御方式和社会支持均具有显著性差异,心理健康状况差的学生较心理健康好的学生更多地使用不成熟的防御策略,且在客观支持、主观支持、对支持的利用度和总分上均显著地低于心理健康状况好的学生;不成熟的防御策略对心理健康具有显著影响。结论贫困生的心理健康与防御方式和社会支持之间具有显著的关联性,应从转导不成熟的防御策略和营造良好社会支持系统两方面对贫困生的心理健康进行维护。     

可控制性卵巢刺激治疗中促性腺激素释放激素激动剂降调节与卵巢过度抑制

基于促性腺激素释放激素激动剂(GnRH-a)短时给药对垂体的激发作用引起血清黄体生成素(LH)和卵泡刺激素(FSH)升高有利于增加卵泡募集,而长期给药导致垂体局部受体脱敏与消耗而有效地抑制排卵前LH峰出现和降低卵泡晚期血清LH水平,从而减少卵泡过早黄素化和取消周期、改善卵子质量     

Biological characteristics of newly diagnosed poor prognosis acute myelogenous leukemia

A pilot study was conducted of the biological characteristics of the leukemia cells of newly diagnosed patients with poor prognosis acute myelogenous leukemia (AML). This study included measurements of the pretherapy proliferative rate of the leukemia cells in vivo, assessment of differentiation in vivo during remission induction therapy, and the level of expression of the fms, myc, and IL1β genes in pretherapy leukemia cells. Short cell cycle times were characteristic of the best prognostic category and were associated with a rapid reduction in marrow leukemia cells in cytosine arabinoside (araC)-sensitive patients. Expression of c-fms was associated with rapid reduction in marrow leukemia cells during araC therapy and with a successful treatment outcome. Expression of the IL1β gene was associated with short remissions. These studies suggest that when compared to newly diagnosed standard prognosis AML, the leukemia of poor prognosis patients is more likely to exhibit long cell cycle times, low levels of fms expression, and is less likely to be associated with myeloid differentiation during remission induction therapy. © 1993 Wiley-Liss, Inc.     

What Motivates Participation and Dropout Among Low‐Income Urban Families of Color in a Prevention Intervention?*

Low‐income urban parents of color enrolled in a parent training study were interviewed to understand what motivated their participation and what led 30% of them to subsequently drop out. Most enrolled because they wanted to be better parents. Most dropped out because of time and schedule constraints. Retention was higher when parents' motivations for participation matched program goals. Program location and qualities of the recruiter were cited most often as important; financial compensation was cited least often as important.     

Restriction site polymorphism at the LPA (Lp(a) apoliprotein; apoliprotein(a)) locus

A restriction site polymorphism in the Lp(a) apolipoprotein gene (the LPA gene) is reported. The basis for the polymorphism is presence or absence of an MspI restriction site that appears to be 3' to the last kringle IV structure of the gene. The "1" gene (presence of the restriction site) has a frequency of 0.316 and the "2" gene (absence of the restriction site) has a frequency of 0.684. Both members of each of 67 monozygotic (MZ) twin pairs had the same genotype and there was Mendelian segregation of the DNA variants in 40 families with a total of 75 children. There was a lower proportion of people with genotype 1-1 in the top quartile than in the 3 bottom quartiles of the population distribution of Lp(a) lipoprotein levels but the difference did not reach statistical significance.     

Growth hormone co-treatment for ovulation induction may enhance conception in the co-treatment and succeeding cycles, in clonidine negative but not clonidine positive patients

To investigate the effect of co-treatment with growth hormone(GH) for ovulation induction with human menopausal gonadotrophins(HMG) on conception, we compared the pregnancy rate and responseto co-treatment with GH versus HMG/human chorionic gonadotrophin(HCG) alone in a prospective, randomized, cross-over protocolof volation induction for either in-vivo or in-vitro fertilization(IVF). The main outcome measures were the amount of gonadotrophinused and conception. Co-treatment with GH was associated witha reduction of 30% in gonadotrophin requirement. In 24 clonidinenegative patients 14 pregnancies were achieved (58.3%) eitherin the GH/HMG/HCG cycle or in the succeeding one. GH co-treatmentdid not generate any pregnancy in eight clonidine positive patients.We conclude that growth hormone may increase the pregnancy ratewhen combined with HMG/HCG for ovulation induction, not onlyin the co-treatment cycle but also in the succeeding one. Thebeneficial, synergistic effect of GH co-treatment was detectedin clonidine negative but not in clonidine positive infertilepatients.     

Posttraumatic stress disorder (PTSD) and posttraumatic stress symptoms (PTSS) in families of adolescent childhood cancer survivors

OBJECTIVE: To describe rates and concordance of posttraumatic stress disorder (PTSD) and posttraumatic stress symptoms (PTSS) in adolescent childhood cancer survivors and their mothers and fathers. METHOD: Participants were 150 adolescent survivors of childhood cancer, 146 mothers, and 103 fathers who completed the Impact of Events Scale-Revised, the Posttraumatic Stress Disorder Reaction Index, and the PTSD module of the Structured Clinical Interview for the Diagnostic and Statistical Manual of Mental Disorders, fourth edition. RESULTS: PTSS are common in families of childhood cancer survivors. Parents reported more symptomatology than former patients. Mothers and fathers had relatively equal rates of current PTSD and levels of PTSS. Nearly 30% of mothers met diagnostic criteria since their child's diagnosis, with 13.7% currently experiencing PTSD. Nearly 20% of families had at least one parent with current PTSD. Ninety-nine percent of the sample had at least one family member reexperiencing symptoms. CONCLUSIONS: Both PTSD and PTSS help in understanding the experience of adolescent cancer survivors and their families. Within families of childhood cancer survivors, it is likely that some member may be experiencing treatable bothersome memories, arousal, or avoidance specific to the cancer experience.