内蒙古自治区智力残疾现患率调查及病因分析

目的:了解内蒙古自治区智力残疾(mental retardation.MR)的现患率及其分布特点,分析其主要致残原因构成特点,探讨预防治疗措施。方法:采用概率比例、多阶段分层整群抽样方法进行现况调查及病例对照研究,根据年龄分别使用丹佛发育筛查测验及《7岁以上人群残疾筛查问卷》筛查,分别使用Gesell发育诊断量表及韦氏儿童智力量表简式(WISC-CR),韦氏成人智力量表简式(WAIS-RC)进行智力诊断,采用SPSS11.0软件对数据进行统计分析。结果:①内蒙古自治区智力残疾患者的现患率为4.95‰,男性MR现患率高于女性(χ2=6.28,df=1,P<0.05),农村MR的现患率明显高于城市(χ2=60.035,df=1,P<0.01)。②内蒙古自治区智力残疾致残原因以疾病(29.26%)和遗传因素(23.79%)为主。③在18岁之前(智力发育期)发现智力残疾的占74.53%,且以0~3岁发现智力残疾的人数比例最高(48.84%)。结论:智力残疾的防治重点应在农村,预防应以疾病(主要包括脑疾病、内分泌障碍、惊厥性疾病)及遗传因素为主。强调早期发现、早期干预。     

Ten-year survival in 290 patients with endometrial cancer: prognostic factors and therapeutic approach

Summary. Between 1970 and 1976, 290 patients with endometrial cancer were treated at the 1st Obstetrics and Gynecology Clinic of the University of Milan. The median age was 62 years. Surgery was completed in 262 (90.3%) patients. Abdominal hysterectomy was used in 158 (70.9%) stage I and 40 (71.4%) stage II/III patients; vaginal hysterectomy in 55 (24.7%) stage I and nine (16.1%) stage II/III patients. Resection of the upper vagina was performed in 168 patients. Postoperative external beam radiotherapy was used in stage II/III patients and in 44 (19.7%) stage I high-risk patients. Ten-year survival, determined by the life-table method, was 84.8% in stage I (223 patients), 53.4% in stage II (37 patients), 64.4% in stage III (19 patients), and 9.1% in stage IV (11 patients). Factors associated with poorer prognosis were: late age at diagnosis (P<0.001); deep myometrial invasion (P<0.001); poorly differentiated histological grade ( P =0.11); lack of resection of the upper vagina ( P = 0.13). The role and importance of surgery is discussed, with special emphasis on the selective use of the vaginal route in aged, obese and medically high-risk patients.     

Accurate and rapid "multiplex heteroduplexing" method for genotyping key enzymes involved in folate/homocysteine metabolism

BACKGROUND: Hyperhomocysteinemia, which is often associated with low folate status, is an independent risk factor for cardiovascular diseases and several other pathologies. The four most common functional polymorphisms in genes involved in folate/homocysteine metabolism are methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MS) A2756G, and cystathionine beta-synthase (CBS) 844ins68. The pathogenic impact of these variants is under active investigation in many laboratories. However, conventional genotyping methods, mostly using PCR followed by restriction enzyme digestion, often are compromised by partial fragment digestion. There is, therefore, a need to develop more reliable approaches to genotyping the above polymorphisms that may be applied in large-scale studies. METHODS: Sequence-specific heteroduplex generators for each of the MTHFR and MS single nucleotide polymorphisms were generated by site-directed mutagenesis. These were subcloned into a single construct, pHcyHG-1, which could be multiplexed with a simple PCR amplification across the CBS 844ins68 polymorphic site to generate composite genotype-specific banding patterns from individual genomic DNA samples that could be electrophoretically resolved. RESULTS: The "multiplex heteroduplexing" method yielded unambiguous MTHFR, MS, and CBS genotypes in a single-tube reaction that could be analyzed in a single gel run. CONCLUSIONS: This method permits unambiguous genotyping of the four most common functional variants of enzymes involved in folate/homocysteine metabolism. It is rapid, reproducible, and inexpensive, and requires no special preparative or analytic facilities; consequently, it will facilitate large-scale studies of the genetic basis of hyperhomocysteinemia and the many pathologies that have been associated with this phenotype.     

Preliminary report on the validation of a grammar-based computer system for assessing skeletal maturity with the Tanner-Whitehouse 2 method

A series of hand and wrist radiographs was assessed manually by two individuals and by a fully automated computer system for determining bone age. Assessments were repeated after 1 month to determine variability between and within the methods of bone age assessment. There was slight intra-observer variation, but complete reproducibility when assessments were made by computer. The variation between the human assessors was less than that between human and computer assessments. The difference between overall maturity scores made by the human observer and the computer system was, however, acceptably small, and the majority of assessments were the same. It is concluded this computer system for assessing bone age in normal children is reliable and accurate, but that it needs to be validated against a much larger set of radiographs.