New multiple congenital anomalies: Mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement

Five unrelated patients (a male and 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which has been designated the facio-cutaneous-skeletal (FCS) syndrome and which includes mental retardation with specific sociable, humorous behavior, characteristic facial appearance, excessive generalized skin, postnatal growth failure, and skeletal involvement. Consanguinity was noted in 2 patients, thus autosomal recessive inheritance is suggested. © 1992 Wiley-Liss, Inc.     

躯体形式障碍的治疗分析

目的探讨躯体形式障碍的治疗方法。方法用钟友彬的认识领悟疗法对躯体形式障碍3案例治疗通程予以报告和分析。结果认识领悟疗法对躯体形式障碍有一定的临床治疗效果。结论认识领悟疗法治疗躯体形式障碍是有效的和可行的。     

大学生完美主义、自尊、自我和谐和自杀意念的关系研究

目的了解大学生的完美主义、自尊、自我和谐和自杀意念状况,分析影响大学生自杀意念产生的主要因素。方法采用完美主义量表、自尊量表、自我和谐量表和自杀意念自评量表对河南省7所高校800名大学生进行统一问卷调查。结果完美主义和自杀意念在是否独生子上不存在显著差异(P>0.05),而自杀意念在性别上存在显著差异(P<0.01);完美主义及其维度、自尊、自我和谐与自杀意念之间存在显著相关,并且完美主义的4个维度——担心错误、行动的疑虑、条理性,自尊和自我和谐可以预测自杀意念。结论应采取措消除完美主义的消极影响,培养适中的自尊水平和自我和谐的人格,降低自杀意念的产生。     

幼师生自尊与心理健康的相关研究

目的 检验幼师女生自尊水平与心理健康的关系。方法 使用自尊量表和SCL-90量表对196名幼师女生进行测量。结果 幼师女生的心理健康总体水平不高，幼师女生自尊水平与心理健康之间存在的显著的负相关。结论 一方面幼师女生的自尊受心理健康水平的影响，特别是抑郁、强迫和人际敏感等方面；另一方面幼师女生的自尊也会影响她们的心理健康水平。     

广州市至灵学校167名学员智残原因的调查分析

本文以广州市至灵学校（智低）167名学员为研究对象，完成智力测验、体格检查和染色体分析．并且追溯围产期和出生后的种种异常．询查智力低下的家族史。综合分析有关资料，显示围产期的某些不利因素、遗传与先天疾病，以及婴幼儿中枢神经系统疾病是主要的发病原因。从而指出，加强优生咨询、重视围产期保健、提高产前诊断和产程中的监护水平、早期防治胎婴儿中枢神经系统损伤和疾病等，是降低智残儿发生率的重要措施。     

四川昭觉县竹核乡彝族老年精神卫生调查

以统一的流调方法和诊断标准,在500户彝族家庭中对118名60岁以上的农村老人进行了精神卫生流行病学调查。结果显示,老年期精神疾病患病率为5.08%,主要是酒精依赖。     

Mild Brachmann–de Lange syndrome: Changes of phenotype with age

We present a girl with mild manifestations of the Brachmann-de Lange syndrome (BDLS) with gradual change of the phenotype. Her findings support the hypothosis of variability of the phenotypic spectrum of the disorder.     

大学生寻求专业心理帮助态度测量工具的初步研究

目的在综合有关研究文献的观点，以开放问卷调查为基础上，编制适合中国大学生寻求专业心理帮助量表，为研究大学生心理求助提供测评工具。方法从大学生心理求助行为实际出发，对大学生进行开放式问卷调查，随机抽取有代表性的福建省的大学生样本．对问卷作因素分析和效度与信度分析。结果提出信任、需求、容忍度和开放度共4个维度构成大学生寻求专业心理帮助态度的结构和成分；编制的“大学生寻求专业心理帮助态度量表”总量表信度系数为0．8392。结论大学生寻求专业心理帮助态度量表具有良好的信度和效度，可在实际中应用。     

De novo proximal interstitial deletions of 14q: Cytogenetic and molecular investigations

We report on 2 unrelated patients who had chromosome analysis performed because of psychomotor delay, Failure to thrive, and minor anomalies. Each patient had a novel proximal 14q deletion (q11.2 to q21.1 in patient 737 and q12 to q22 in patient 777). Polymorphic (C-A)_n microsatellite markers distributed along the length of chromosome 14q were examined in both patients and their parents in order to determine which marker loci were deleted. The deletion in patient 737 was found to be paternal in origin, based on the analysis of 2 marker loci (D14S54 and D14S70), thus assigning these loci to the deleted interval q11.2 q21.1. Furthermore, 3 loci were not deleted (TCRD, D14S50, and D14S80), suggesting that they are within or proximal to 14q11.2. In the other family (patient 777), none of the markers were fully informative, but the deleted chromosome was determined to be paternally derived based on cytogenetic heteromorphisms. Despite having overlapping proximal 14q deletions, these 2 patients shared few phenotypic similarities except for failure to thrive, micrognathia, and hypoplasia of the corpus callosum. Therefore, a distinct proximal 14q deletion syndrome is not yet apparent. However, the molecular analyses facilitated the localization of several 14q DNA markers to the deletion regions in these 2 patients, while excluding other markers from each deletion. © 1994 Wiley-Liss, Inc.     

Ring chromosome 22 and neurofibromatosis

Variable constitutional mosaicism, mos45,XY,-22/46,XY,-22,+mar/46,XY,-22,+r(22)/47,XY,-22,+r(22)+mar/ 47, XY,-22,+r(22)*2, was found in PHA-stimulated peripheral blood, in a lymphoblastoid cell line and in cultured skin fibroblasts from a mentally retarded patient with neurofibromatosis. Both the ring chromosome and the small extra marker chromosome stained positively by in situ hybridization with a chromosome 14/22-specific alphoid repeat probe. DNA dosage analysis showed constitutional loss of one copy of the arylsulfatase A gene (ARSA), consistent with its terminal location on 22q. There was no evidence of constitutional loss of D22S1 or D22S28 which flank the neurofibromatosis type 2 (NF2) locus. Analysis of two DNA samples from a skin neurofibroma indicated retainment of two copies of D22S1, whereas the results were ambiguous with respect to tumor-specific loss of one copy of D22S28. It is suggested that the development of neurofibromatosis of unclear type in two r(22) carriers might be associated with somatic mutation of the NF2 locus due to instability of the ring chromosome(s), and in analogy, that somatic mutation of either NF1 or NF2 may account for some cases of neurofibromatosis which do not meet the criteria of either NF1 or NF2. The occurrence of seminoma in the proband may be fortuitous, but could also be due to the presence of a seminoma-associated locus on chromosome 22.