Recognizing Ullrich-Turner syndrome by discriminant analysis of craniofacial structure

In the present paper, we propose an efficient strategy for identification of craniofacial anomalies in the Ullrich-Turner syndrome (UTS). Standardized portrait- and profile-photographs were taken of 21 UTS patients with X-monosomy and 21 normal females. Twenty-seven craniofacial parameters were read from the photographs. The data were analyzed by discriminant analysis, a multivariate statistical method. The result was a function represented by a linear combination of all those craniofacial parameters which best separate the two groups. The discriminant function was applied to 15 additional patients with UTS of various cytogenetic types. All 15 patients were classified correctly. The technique facilitates syndrome-recognition and is a contribution toward the study of karyotype-phenotype relations. © 1996 Wiley-Liss, Inc.     

掌骨的X线测量及其与身高的性别判别分析

目的：探讨掌骨的侧别与性别差异及性别判别方法，积累有关解剖学资料。方法：随机选择健康汉族大学生，进行双手后前位x线拍片，分别测量各掌骨长与中点宽，同时测量身高，将所得数据用SPSS软件进行统计学分析处理。结果：男性第2、4、5掌骨宽度以及女性第3、4、5掌骨宽度左右手侧差有显著性意义，男女性别差异亦有显著意义；同时应用Fisher法分析得出4个判别式，判别率分别为87．6％和89．8％。结论：所得性别判别式对法医学性别判别应用价值较大，为体质人类学和法医学提供了有关解剖学资料。     

指骨的X线测量及其性别判别关系

目的：对指骨各指节的长度及宽度进行X线测量，为法医学及人类学提供判别率较高的性别判别式。方法：随机选择健康汉族大学生186人(男90人，女96人)，进行双手后前位X线拍片，分别测量各掌骨长与中点宽，将所得数据应用SPSS软件进行统计学分析。结果：男性指骨左右示指近节宽、中指近节宽及环指近节宽侧别差异有显著性意义，女性侧别差异无显著性意义；除小指近节指骨宽外，性别差异均有显著性意义。应用Fisher法提出8个性别逐步判别式，判别率在86．0％-91．9％之间。结论：以上判别式对法医学及人类学的性别鉴定简单实用，具有较高参考价值。     

拉萨藏族青少年指骨X线测量及其与身高的性别判别分析

目的:对藏族拉萨青少年指骨各指节长度及宽度进行X线测量,探讨其性别差异及其与性别判别的相关性,为法医及人类学提供判别率较高的性别判别式.方法:随机选择健康的藏族拉萨青少年1 680人(男840人,女840人),进行左手前后位X线拍片,同时测量身高,将所得数据用SPSS17.0软件进行统计学分析处理.结果:男性与女性各指骨长度均无差异,男、女指骨宽度性别差异均有统计学意义,唯环指近节宽和环指远节指骨宽在男女间差别无统计学意义.同时将指骨与性别的判别分析为第1组,指骨和身高与性别的判别分析为第2组,应用Fisher法逐步判别分析得出2组判别式分别为Y=2.603X1+1.733X8+9.987X22+1.057X23+0.742X10+1.896X11-107.480,Y=2.292X1+2.448x8+8.709X22-0.319X23+1.685X10+0.516X11-92.976; Y=1.160X8+8.713X22-4.611X23-0.847X10-0.981X11 +2.231h1 -178.514,Y=1.849X8 +7.488X22-5.820X23 +0.001X10-2.253X11 +2.148h2-159.747.第1组判别率分别为80.2％、86.1％,第2组判别率分别为81.5％、86.1％,如Y(女)＞Y(男)即判为女性,反之Y(男)＞Y(女)则判为男性.结论:以上判别式对法医学及人类学的性别鉴定简单实用,具有较高参考价值.     

哈萨克族成人掌骨的X线测量及其与身高的性别判别分析

目的 对新疆哈萨克族成人掌骨长度进行X线测量,探讨其性别差异及其有性别判别方法的相关性,为法医学及人类学提供判别率较高的性别判别式。方法 随机选择健康新疆哈萨克族成人200人（男100人,女100人）,进行双手后前位X线拍片,分别测量各掌骨长度,同时测量身高,将所得数据用SPSS15.0软件进行统计学分析处理。结果 男性第4掌骨长度以及女性第5掌骨长度左右手差别有显著性,男、女性第4、5掌骨长度左右手差别有显著性;同时应用Fisher法分析得出4个判别式,判别式分别为Y＝2.824r1＋2.563r4-0.654r5＋0.614l7-0.039l9＋2.452 l10-212.186,Y＝2.350r1＋2.377r4-0.995r5＋0.445l7＋0.046l9＋2.966 l10-191.622,Y＝0.393h1＋3.152r1＋0.435r5＋1.250 r10-463.734,Y＝0.362h1＋2.785r1＋0.028r5＋1.834 r10-404.748,判别率分别为89.67%、86.55%、90.00%和87.50%。结论 新疆哈萨克族男、女身高增长与掌骨增长密切相关。     

哈萨克族成人指骨长度的X线测量及其与身高的性别判别

目的 探讨新疆哈萨克族成人指骨长度与身高的依存关系。方法 随机选择健康哈萨克族成人200人（男100人,女100人）,进行双手后前位X线拍片,分别测量各节指骨长度和对应的身高。计算各节指骨长度的均值、标准差和标准误,并且从各节指骨长度推断身高的性别判别方程。结果 男性和女性各节指骨长度之间的差异有统计学意义（P＜0.01）。经相关分析建立了哈萨克族成人指骨长度推断身高的4个性别判别方程（Y₁＝0.780ZM₁＋3.146YM₂＋1.594YS₁＋0.618ZS₃＋0.045YX₁＋1.891ZX₁＋2.548ZX₃-135.324, Y₂＝0.3450ZM₁＋2.328YM₂＋1.814YS₁＋1.355ZS₃＋0.714YX₁＋1.461ZX₁＋1.580ZX₃-118.678, Y₃＝3.540SG＋0.859YM₂-1.882ZS₂＋0.640YZ₁-5.598YZ₂＋5.794ZZ₂＋0.807YZ₃＋0.695ZX₁-391.229, Y₄＝3.284SG＋0.313YM₂-1.595ZS₂＋1.113YZ₁-3.869YZ₂＋4.959ZZ₂＋5.244YZ₃＋0.353ZX₁-340.001）。 结论 所得性别判别式对法医学性别判别应用价值较大,为体质人类学和法医学提供了有关新疆哈萨克族人的解剖学资料。     

Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis

Antley-Bixler syndrome (ABS, MIM 207410) is a skeletal abnormality syndrome primarily affecting head and limbs. Little is known of the origin of the condition but inactivating mutations in the fibroblast growth factor receptor (FGFR2) has been found in some patients. Genital ambiguity is seen occasionally in this condition, suggesting possible disordered steroidogenesis in early pregnancy. We report the steroid excretion of eight patients diagnosed with the syndrome and one with a related condition, a mild phenotype of the disorder since skeletal and genital abnormalities were not evident. The steroid excretion pattern was consistent and very distinctive in all nine patients. Metabolites of the two primary precursors of steroid hormones, pregnenolone and progesterone, were elevated as were the classical diagnostic metabolites for 17- and 21-hydroxylase deficiencies. Cortisol production was typically within the normal range but generally had blunted response to ACTH. Androgen metabolite excretion tends to be low in patients over 2 months of age, but may be elevated in the newborn period. The metabolome suggested attenuated steroid hydroxylation (including 17,20-lyase activity) although underlying cause is yet to be established. Mutations in CYP17 and CYP21 have not been found and currently the prime suspect is an abnormality in an essential redox partner (P450 oxidoreductase). This paper proposes use of the distinctive steroid metabolome as the primary biochemical parameter for diagnosis of ABS, at least the form not associated with FGFR2 mutations.     

三个先天性长QT综合征家系的基因分型

目的　对 3个先天性长 QT综合征 ( long QT syndrome,L QTS)家族成员进行基因诊断。方法　应用位于 H ERG和 SCN5 A基因内和邻近的短串联重复序列 ( shorttandem repeat,STR)位点确定染色体单体型 ,对 3个汉族 L QTS家系进行单体型连锁分析。结果　临床诊断患者 15例 (其中 3例死亡 ) ,疑似患者 11例。单体型连锁分析结果 :L QTS患者 14例 ,排除 2例假阳性患者和 7例疑似患者。家系 1的致病基因位于 SCN5 A,家系 2和家系 3的致病基因位于 H ERG。结论　单体型连锁分析能为 L QTS基因分型和症状前诊断提供有效手段。     

Software and hardware for the differential diagnosis of parodontal disease using discriminant analysis

Conclusion Our investigation showed that the methods of functional diagnosis of parodontal diseases (namely RPG and PPG) in conjunction with discriminant analysis differentiates with a high degree of probability existing forms of parodontal disease. It is important to emphasize that the use of computational technology on all levels (from hospital computers to personal computers and microcalculators) permits the physician to perform his tasks in a simple and generally accessible manner. In practice the physician makes use of prepared programs entered into the memory of a computer or microcalculator, which not only relieves him of routine work but also allows him to perform necessary calculations in the most efficient way, which in many ways increases the efficiency and quality of his diagnosis. This in turn permits determination of more precise indications (individually for each patient) for pathogenetic therapy of parodontal disease. The calculations can be useful in applying discriminant analysis in stomatology on a broad scale: for the objective of an entire range of diagnostic indicators (x-ray, biochemical, hematological, microbiological, immunological et al.), and also in the comparative analysis of epidemiological data, marginal-pathological and iatrogenic factors etc. The algorithm and software examined above are being used as a supplementary unit in the DIAST expert system.Central Scientific-Research Institute of Stomatology, Moscow. Stomatological Polyclinic No. 2, Perm. District Stomatological Polyclinic, Irkutsk. Translated from Meditsinskaya Tekhnika, No. 2, pp. 20–24, March–April, 1991.     

Classification of the long-QT syndrome based on discriminant analysis of T-wave morphology

The long QT syndrome (LQTS) is a genetic disorder, typically characterized by a prolonged QT interval in the ECG due to abnormal cardiac repolarization. LQTS may lead to syncopal episodes and sudden cardiac death. Various parameters based on T-wave morphology, as well as the QT interval itself have been shown to be useful discriminators, but no single ECG parameter has been sufficient to solve the diagnostic problem. In this study we present a method for discrimination among persons with a normal genotype and those with mutations in the KCNQ1 (KvLQT1 or LQT1) and KCNH2 (HERG or LQT2) genes on the basis of parameters describing T-wave morphology in terms of duration, asymmetry, flatness and amplitude. Discriminant analyses based on 4 or 5 parameters both resulted in perfect discrimination in a learning set of 36 subjects. In both cases cross-validation of the resulting classifiers showed no misclassifications either.Patent pending—EPO 03029363.3—2305     

产前诊断21三体综合征的临床分析

目的通过对产前诊断中21三体综合征进行临床分析,了解孕龄、唐氏征筛查、家族遗传史及B超异常对21三体综合征发生的影响。方法收集我院2005年至今羊水穿刺产前诊断标本共3960例,其中21三体综合征43例,通过对43例孕妇从发病年龄、家族遗传史、唐氏征筛查及B超异常来综合分析21三体综合征的发生情况。结果 43例21三体综合征中：年龄≥34岁18例,占41.9%;唐筛阳性15例,占34.9%;遗传病史6例,占13.9%;B超异常4例,占9.3%。结论加强对有产前诊断指征孕妇进行必要的产前诊断,可减少21三体综合征患儿的出生;加强宣传,提高孕妇、家庭及社会的对羊水产前诊断的认识。     

Outcome prediction in adult respiratory distress syndrome using discriminant analysis of cardiorespiratory data.

In order to examine the prognostic value of different cardiopulmonary variables in adult respiratory distress syndrome the data of 30 patients with this illness were studied retrospectively. The patients were divided into 3 groups: Group A: survivors (9 cases, 40 examinations), Group B: early stage nonsurvivors (8 cases, 37 examinations), Group C: late stage nonsurvivors (19 cases, 89 examinations). In 6 nonsurvivor patients a few measurements were done in the early and late stage, too. There were highly significant differences between Groups A and C (mean pulmonary arterial pressure, pulmonary arterial diastolic pressure minus pulmonary capillary wedge pressure, left ventricular stroke work index, systemic and pulmonary vascular resistance, inspired oxygen fraction, arterial oxygen tension per inspired oxygen fraction, mixed venous oxygen saturation, pulmonary shunt fraction, and oxygen delivery, but the differences in relation to other groups were less prominent. Using a step-wise discriminant analysis, it was found that the oxygenation parameters alone determined the outcome correctly in 68-75%. Extending the analysis to haemodynamic variables the result improved (72-80%). Similar prediction was obtained when parameters potentionally measurable by noninvasive methods were analysed (69-80%). These results suggest that it is possible to predict the outcome of ARDS correctly without any invasive monitoring technique.