Clinical and cytogenetic aspects of X-chromosome deletions

Karyotype/phenotype correlations in six non-mosaic patients with dysgenetic ovaries and partial deletions of the X-chromosome (three patients with short arm, and three with long arm deletions) are presented and the pertinent literature is analysed. It would appear that functioning ovarian tissue is present more often in patients with a short arm deletion than in those with a deleted long arm. This may represent a difference in the strength of two sets of controlling factors, but it can also be related to break point position. This in turn may be misinterpreted due to the difficulty in distinguishing between terminal and interstitial deletions in the long arm. Stature may be a heterochromatic effect, but if specific genetic factors influencing stature exist, then they would appear to be situated mostly on the short arm of the X-chromosome, although some 'statural determinants' occur also on the long arm and could be located rather close to the centromere. Deletions of the short arm of the X-chromosome were almost always associated with some features of the Turner phenotype, and could possibly be related to a gene dosage effect.     

血清锌、钙、锰含量对矮小儿童身高、骨龄的影响

目的:探讨血清锌、钙、锰含量对儿童身高、骨龄的影响。方法:用高频等离子体发射光谱法测定30例矮小儿童血清锌、钙、锰含量,同30例正常健康儿童比较。并进行锌、钙、锰与身高、骨龄相关分析。结果:矮小儿童血清锌、钙、锰含量明显低于对照组。相关分析发现,血清锌、钙、锰与身高呈明显正相关(P<0.01),血清锌、锰与骨龄呈明显正相关(P<0.01),而血清钙与骨龄无相关性(P>0.05)。结论:血清锌、钙、锰与儿童身高增长,骨龄成熟密切相关。     

红外线短波紫外线照射对感染伤口愈合的影响

目的：探讨红外线、短波紫外线照射对感染性伤口愈合的影响。方法：用随机方法将７２例感染伤口病人分为Ａ、Ｂ两组,每组３６例,Ａ为治疗组：在消炎、伤口换药基础上加用红外线、短波紫外线照射伤口７天,Ｂ为对照组：单纯消炎、伤口换药。结果：Ａ组治愈２８例,显效８例,有效率１００％。Ｂ组治愈１４例,显效１２例,无效１０例,有效率７２％,统计学处理Ｘ＾２＝１５．４７Ｐ〈０．０１,两组有显著差异。结论：红外线、短波     

Validation of the STR system FES/FPS for forensic purposes in an Austrian population sample

The short tandem repeat system FES/FPS was amplified by the polymerase chain reaction (PCR) in 211 unrelated Austrians and analysed by horizontal, non-denaturing electrophoresis. The allele distribution was in Hardy-Weinberg equilibrium. No mutations were found in 25 families (50 meioses). The mean exclusion chance was 0.49, the discriminating power 0.86 and the heterozygosity rate 74.4%. Amplification could be achieved with as little as 100 pg of high molecular weight DNA, which could be reduced to 75 pg by using 32 instead of 30 cycles. By reamplifying 1 l for another 15 cycles, the threshold could be reduced to less than 20 pg. In a degradation experiment DNA extracted from bloodstains stored for up to 24 days in a moist chamber and DNA boiled for up to 18 min could be amplified.     

The use of the STRs HUMTH01, HUMVWA31/A,HUMF13A1, HUMFES/FPS,HUMLPL in forensic application: Validation studies and population data for Galicia (NW Spain)

The 5 tetranucleotide short tandem repeats, HUMTHOI, HUMVWA31/A, HUMF13A1, HUMFES/FPS and HUMLPL were studied using different electrophoretic methods and PCR amplification conditions in order to optimize the typing conditions. A genetic population study in the population of Galicia was carried out and the allele and genotype frequencies are given. Compliance with the Hardy-Weinberg equilibrium was tested using different statistical parameters, with clear advantages resulting in favor of using the exact test (Guo-Thompson method) instead of conventional chi-square methods. Some statistical parameters of forensic interest (PD, CE, h) were also calculated. There were no mutations found in a total of 73 paternal meioses and 101 maternal meioses. Abnormal electrophoretic mobility was found in the AT-rich STR HUMF13AI under non-denaturing conditions and, therefore, the use of denaturing conditions is absolutely necessary. No "stutter" bands were found, although double peaks in the HUMFES/FPS system were observed in some samples. The advantage of using automated sequencers with fluorescent technology is also reported.     

Growth hormone secretion in children and adolescents with familial tall stature

Sixty-five patients (22 boys and 43 girls) presenting with familial tall stature were investigated with regard to growth hormone (GH) secretion, both physiological and after stimulation with thyrotropin releasing hormone (TRH) and growth hormone relasing hormone (GHRH). Plasma insulin-like growth factor-I (IGF-I) was also measured. Two groups of patients were distinguished according to their physiological secretion of GH: a high secretory group (n=49) with a mean 24 h integrated concentration of GH (IC-GH) of 5.4±2.3 g/l per minute and a large number of peaks (5.1±1.6 in 24 h), and a low secretory group (n=16) with a mean 24 h IC-GH of 2.1±0.5 g/l per minute and few peaks (3.3±1.3 in 24h). Plasma IGF-I levels and GH peak values after the TRH test were significantly higher in the high secretory group. These results indicate that familial tall stature is the consequence either of hypersecretion of GH or of hypersensivity to this hormone (IGF-I levels being normal in spite of low GH levels).     

16～22岁高身材青少年体质与健康状况分析

目的：研究16～22岁高身材有少年体质与健康状况。方法：以1995年全国学生体质健康调研16～22岁男女青少年114917人为对象,按马丁身高分类标准分成8类,分析其中高身材者体质现状和健康问题。结果：1995年群体中处于马丁6段以上的高身材者比1991年明显增多,达到特高身材（男≥185.0cm,女≥1720cm）的比1991年增加约一倍。高身材青少年中近视和龋齿患病率较高,存在着身体柔韧性院,肌耐力水平低和耐力跑成绩不如其他身高段的现象。结论：高身材青少年并非意味着体质与健康状况有更高的优势,应采取措施促进其健康成长。     

A new method of STR interpretation using inferential logic -development of a criminal intelligence database

Abstract A short tandem repeat (STR) system consisting of seven multiplexed loci has recently been introduced in the UK to support a National strategy to create large DNA databases for criminal intelligence purposes. The process uses automated sequencers, employing dye-labelled primers. Identification of tetrameric loci such as HUMTH01 are straightforward. Sizing windows are estimated by running a series of control allelic ladders on several gels and unknown samples are designated if they fall within a defined window. However, utilisation of complex STRs (eg. D21 S 11) characteristically have common variants which differ by just 2 bp. In addition, rare alleles are encountered which may differ by just 1 by from a common variant. To assist with the identification of alleles, we have introduced a series of allelic ladders, so that direct comparisons with unknown samples can be made on the same gel. To designate an allele, it should be within 0.5 by of an allelic ladder marker. Not all alleles (in particular rare alleles) can be included within an allelic ladder, however their expected positions can be easily calculated by reference to existing alleles in the ladder. Measurement of band shift is also a useful diagnostic tool. A series of guidelines are described to enable reliable allelic identification. These guidelines can be converted into computer programmes, which form the basis of an expert system.     

Completely covered cloacal exstrophy: recognition of a new clinical sub-entity

A case showing many of the typical visceral features of cloacal exstrophy is reported. The patient had fn imperforate anus, a cecal-cloacal fistula, dehiscence of the pubiic symphysis, and lumbosacral spina bifida with synsingomyelia, but the lower abdominal wall was intact without any visceral extroversion. The pertinent literature was reviewed, and it was found that this case corresponded to t typical case of completely covered cloacal exstrophy. Only six cases, including the present one, have so far been reported in the literature. From a clinical viewpoint, it apparently occupies an intermediate position in the wide spectrum of cloacal anomalies between classical cloacal exstrophy and imperforate anus with recto-cloacal fistula, but anatomatically and embryologically it is definitely a variant of cloacal exstrophy. In other words, it looks like an imperforate anus with recto-cloacal exstrophy, but should be treated as a variant of loacal exstrophy. The anatomy, classification, embryology, diagnosis, and management of this peculiar surgical condition are discussed, and recognition of this entity is urged.     

高位隐睾应用“长袢输精管”睾丸固定术12例报告

对于高位隐睾不能Ⅰ期手术降入阴囊者采用了“长袢输精管”固定术,共治疗12例17侧隐睾,16侧效果满意。随访中对睾丸部位、大小、弹性作了估价。认为手术成功的关键在于高位切断精索、保留输精管血管及睾丸引带侧支。