An epidemiologic approach to computerized medical diagnosis—AEDMI program

A program called “An Epidemiological Approach to Computerized Medical Diagnosis” (AEDMI) is presented. Using an interactive questionnaire, physician-patient interviews are conducted and a summary of the relevant clinical data is provided. Standard items, obained on a multi-centre basis, form a large-scale data base. Simultaneously, the reasoning of clinical experts in each real case is analyzed to obtain a knowledge-rules data base. The methodology of the program combines Bayesian systems, expert systems, and other new lines of researcg such as neural networks or case-based reasoning. The general concepts of clinical decision making aid systems are reviewed. This publication is aimed at obtaining international cooperation.     

Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning

Angelman syndrome (AS) is caused by several genetic mechanisms that impair the expression of maternally‐inherited UBE3A through deletions, paternal uniparental disomy (UPD), UBE3A pathogenic variants, or imprinting defects. Current methods of differentiating the etiology require molecular testing, which is sometimes difficult to obtain. Recently, computer‐based facial analysis systems have been used to assist in identifying genetic conditions based on facial phenotypes. We sought to understand if the facial‐recognition system DeepGestalt could find differences in phenotype between molecular subtypes of AS. Images and molecular data on 261 individuals with AS ranging from 10 months through 32 years were analyzed by DeepGestalt in a cross‐validation model with receiver operating characteristic (ROC) curves generated. The area under the curve (AUC) of the ROC for each molecular subtype was compared and ranked from least to greatest differentiable phenotype. We determined that DeepGestalt demonstrated a high degree of discrimination between the deletion subtype and UPD or imprinting defects, and a lower degree of discrimination with the UBE3A pathogenic variants subtype. Our findings suggest that DeepGestalt can recognize subclinical differences in phenotype based on etiology and may provide decision support for testing.     

Three-dimensional modeling of the anatomy of the heart and great vessels

Summary The anatomic constraints imposed on a total artificial heart (TAH) require specific anatomic studies. A thoracic anatomic study was performed with a scanning device equipped with three-dimensional (3-D) reconstruction software on 15 male patients, between the ages of 41 to 63 years (52 ± 6 years). All were candidates for heart transplantation. The 3-D reconstructions of the cardiovascular structures obtained from surgical anatomy data specific to TAH implantation allowed a volumetric measurement of these structures. A modeling diagram of these structures permitted reproducible quantitative measurements of the 35 geometrical parameters which characterized shape, orientation, and position of these structures within the thorax. Most of the measured parameters were characterized by low variability (coefficient of variation from 10 to 25%).

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Modélisation tridimensionnelle de l'anatomie du cur et des gros vaisseaux

Résumé Les contraintes anatomiques imposées au cur artificiel total (CAT) nécessitent des études anatomiques spécifiques. Une étude anatomique thoracique a été réalisée avec un scanner doté d'un logiciel de reconstruction tridimensionnelle (3-D) chez 15 patients, tous de sexe masculin, agés de 41 à 63 ans (52 ± 6 ans), et candidats à une transplantation cardiaque. Les reconstructions 3-D des structures cardio-vasculaires réalisées selon les données de l'anatomie chirurgicale propre à l'implantation du CAT ont permis la mesure volumétrique de ces structures. Un schéma de modélisation de ces structures a permis des mesures quantitatives reproductibles de 35 paramètres géométriques caractéristiques de la forme, de l'orientation, de la position de ces structures dans le thorax. Les résultats de ces mesures ont pu être exprimés en termes statistiques. La plupart des paramètres mesurés étaient caractérisés par une faible variabilité (coefficients de variations de 10 à 25%).

     

Correlation dimension analysis of the artificial circulation

Artificial circulation has been analyzed by decomposing it into parts. However, the sum of the decomposed parts is not equal to the whole system, especially in nonlinear dynamic systems such as biological systems. To evaluate prosthetic circulation as an entity, not as decomposed parts, nonlinear mathematical analytic techniques, including fractal dimension analyzing theory, were used. Two pneumatically actuated ventricular assist devices were implanted as biventricular bypasses (BVB) in chronic animal experiments using four healthy adult goats. For comparison between natural and prosthetic circulation in the same experimental animals, the BVB-type complete prosthetic circulation model with ventricular fibrillation was adopted. All hemodynamic parameters with natural and prosthetic circulation were recorded under awake conditions and calculated by a personal computer system. By the use of nonlinear mathematical techniques, time-series data of the hemodynamics were embedded into the phase space, and correlation dimension analysis was performed to evaluate the reconstructed attractor. Our results suggest that the correlation dimension of the arterial blood pressure does not linearly increase according to the increase of the embedding dimension, even during artificial circulation, suggesting those are the fractal time series data. Dimensional analysis of the hemodynamics revealed that lower dimensional fractal dynamics were observed during prosthetic circulation. Fractal time series data are suggested to have robustness and error resistance. Thus, our results suggest that the circulatory regulatory system with the artificial heart may have these desirable characteristics. Accepted: July 14, 1995     

Large,Consistent Estimates of the Heritability of Cognitive Ability in Two Entire Populations of 11-Year-Old Twins from Scottish Mental Surveys of 1932 and 1947

Twin studies provide estimates of genetic and environmental contributions to cognitive ability differences, but could be based on biased samples. Here we report whole-population estimates using twins from unique mental surveys in Scotland. The Scottish Mental Surveys of 1st June 1932 (SMS1932) and 4th June 1947 (SMS1947), respectively, administered the same validated verbal reasoning test to almost everyone born in 1921 or 1936 and attending school in Scotland. There were 572 twin pairs from the SMS1932, and 517 pairs from the SMS1947. Information on zygosity was unavailable. A novel application of a mixture distribution was used to estimate genetic and environmental components of verbal reasoning variation by maximum likelihood. We found consistent heritability (~0.70) and shared environment (~0.21) estimates. The estimates did not change substantially when additional quantitative traits (height and weight) were added in a multivariate analysis. More generally for studies in genetics, the methodological innovation developed here implies that large (national) data collections can provide sufficient information on twin pairs to estimate genetic parameters, even without zygosity.     

The Genetic Basis of Academic Achievement on the Queensland Core Skills Test and its Shared Genetic Variance with IQ

First, this study examined genetic and environmental sources of variation in performance on a standardised test of academic achievement, the Queensland Core Skills Test (QCST) (Queensland Studies Authority, 2003a). Second, it assessed the genetic correlation among the QCST score and Verbal and Performance IQ measures using the Multidimensional Aptitude Battery (MAB), [Jackson, D. N. (1984) Multidimensional Aptitude Battery manual. Port Huron, MI:Research Psychologist Press, Inc.]. Participants were 256 monozygotic twin pairs and 326 dizygotic twin pairs aged from 15 to 18 years (mean 17 years ± 0.4 [SD]) when achievement tested, and from 15 to 22 years (mean 16 years ± 0.4 [SD]) when IQ tested. Univariate analysis indicated a heritability for the QCST of 0.72. Adjustment to this estimate due to truncate selection (downward adjustment) and positive phenotypic assortative mating (upward adjustment) suggested a heritability of 0.76 The phenotypic (0.81) and genetic (0.91) correlations between the QCST and Verbal IQ (VIQ) were significantly stronger than the phenotypic (0.57) and genetic (0.64) correlations between the QCST and Performance IQ (PIQ). The findings suggest that individual variation in QCST performance is largely due to genetic factors and that common environmental effects may be substantially accounted for by phenotypic assortative mating. Covariance between academic achievement on the QCST and psychometric IQ (particularly VIQ) is to a large extent due to common genetic influences.     

肱骨远端的解剖观测与肱骨假体的设计

目的:为临床肱骨远端假体的设计与安放提供相关数据。方法:测量120块(男35对、女25对)成人干燥肱骨远端相关结构,对所测得结果用SPSS软件处理。结果:(1)肱骨远端前倾角和肱骨滑车外旋角,男女分别为(35.78±5.12)°、(36.33±5.06)°和(5.35±1.13)°、(5.55±1.22)°。(2)内上髁至外上髁最大宽度、滑车最内侧缘至小头最外侧缘宽度、肱骨滑车和肱骨小头宽度男女分别为(58.92±4.03)、(55.75±3.85);(45.34±3.15)、(42.18±3.01);(24.82±1.74)、(21.78±1.51)和(17.69±1.23)、(16.39±1.21)mm。(3)肱骨滑车和肱骨小头最大矢径男女分别为(23.35±2.06)、(23.13±2.15)和(19.47±1.38)、(19.13±2.19)mm。男女之间和左右之间各测量数据无显著性差异(P>0.05)。个体间有较大差异。结论:肱骨远端各项目的测量值,可供设计与安放肱骨假体提供解剖参数。     

Blastocoele collapse by micropipetting prior to vitrification gives excellent survival and pregnancy outcomes for human day 5 and 6 expanded blastocysts

BACKGROUND: Manual puncture of the trophectoderm of human blastocysts with a needle before vitrification increases their survival rate, but the embryos take a long time to re-expand. This study examined whether causing human blastocysts to collapse by manual pipetting before vitrification would allow more rapid re-expansion and improve pregnancy rates. METHODS: After embryo transfer in IVF cycles, surplus embryos that developed to the expanded blastocyst stage were placed in cryoprotectant and then artificially shrunk by mechanical pipetting with a fine hand-drawn glass pipette slightly smaller in diameter than the blastocyst. The shrunken embryos were placed in a small volume of vitrification solution and plunged into liquid nitrogen on a cryotop. The blastocysts were thawed by warming and then dilution in 1 mol/l sucrose. RESULTS: Of 49 expanded vitrified blastocysts, 48 (98%) re-expanded within 3 h after warming. Following transfer (48 blastocysts in 28 cycles), 14 women (50%) became clinically pregnant, and the implantation rate was 33% (16/48). Eight healthy babies have been born in six deliveries, and the other eight pregnancies are ongoing. To date, there have been no spontaneous abortions. CONCLUSIONS: The results suggest that artificial shrinkage with pipetting is a simple and effective technique to assist successful cryopreservation of expanded blastocysts by vitrification.     

不同位置植入SMH人工腰椎间盘对小关节应力分布的影响

目的:通过三维有限元方法研究正常椎间盘、SMH人工腰椎间盘前置、中置和后置四组模型中小关节的应力分布情况,探讨不同位置植入SMH人工腰椎间盘对小关节应力分布的影响。方法:建立正常腰椎间盘、人工SMH腰椎间盘前置、中置和后置的三维模型,然后模拟腰椎节段的运动,进行小关节应力分布的比较研究。结果:与正常L4/5椎间盘模型相比,除SMH人工腰椎间盘前置模型前屈时比正常模型小关节应力小外,其余运动时SMH人工腰椎间盘前置、中置和后置模型中小关节的应力均高于正常腰椎间盘组,但后置SMH人工腰椎间盘组则相对较小。结论:SMH人工腰椎间盘后置可以更好地预防小关节的退变;人工椎间盘植入位置的不同对人工腰椎间盘术远期疗效的预测具一定的作用。     

Perceptual Speed and IQ Are Associated Through Common Genetic Factors

Individual differences in inspection time explain about 20% of IQ test variance. To determine whether the association between inspection time and IQ is mediated by common genes or by a common environmental factor, inspection time and IQ were assessed in an extended twin design. Data from 688 participants from 271 families were collected as part of a large ongoing project on the genetics of adult brain function and cognition. The sample consisted of a young adult cohort (mean age 26.2 years) and an older adult cohort (mean age 50.4 years). IQ was assessed with the Dutch version of the WAIS-3R. Inspection time was measured in the so-called -paradigm, in which a subject is asked to decide which leg of the -figure is longest at varying display times of the -figure. The number of correct inspections per second (i.e., the reciprocal of inspection time) was used to index perceptual speed. For Verbal IQ and Performance IQ, heritabilities were 85% and 69%, respectively. For perceptual speed, 46% of the total variance was explained by genetic variance. No differences in heritability estimates across age cohorts or sexes were found. Across the whole sample, a significant phenotypic correlation was found between perceptual speed and Verbal IQ (0.19) and between perceptual speed and Performance IQ (0.27). These correlations were entirely due to a common genetic factor that accounted for 10% of the genetic variance in verbal IQ and for 22% of the genetic variance in performance IQ. This factor is hypothesized to reflect the influence of genetic factors that determine axonal myelination in the central nervous system.