scholarly journals Detection of hemophilia carriers during pregnancy

Blood ◽  
1982 ◽  
Vol 60 (6) ◽  
pp. 1407-1410 ◽  
Author(s):  
LW Hoyer ◽  
CA Carta ◽  
MJ Mahoney
Keyword(s):  
Genetic Counseling ◽  
Prenatal Care ◽  
Classification Accuracy ◽  
Hemophilia A ◽  
Antenatal Diagnosis ◽  
Sufficient Accuracy ◽  
Blood Samples ◽  
Linear Discriminant ◽  
Normal Women ◽  
Hemophilia Carriers

Abstract The accuracy of hemophilia A carrier detection during pregnancy has been determined using combined measurement of VIII:CAg and VIIIR:Ag. These immunoassays detect determinants that are sufficiently stable in plasma that the assays could be done on frozen samples that had been obtained when women were seen for antenatal diagnosis studies (carrier women) or for routine prenatal care (controls). A linear discriminant was calculated that best separated the data for 32 normal women and 25 obligate carriers of the hemophilia gene. Twenty-three of 25 carriers (92%) and all 32 control women were correctly identified in this analysis. The overall classification accuracy (55/57, 96%) is comparable to that obtained by VIII:C and VIIIR:Ag measurements using freshly drawn blood samples in nonpregnant individuals. This study demonstrates that hemophilia A carriers can be detected during pregnancy with sufficient accuracy that the information may be used for genetic counseling.

scholarly journals Detection of hemophilia carriers during pregnancy

Blood ◽  
1982 ◽  
Vol 60 (6) ◽  
pp. 1407-1410
Author(s):  
LW Hoyer ◽  
CA Carta ◽  
MJ Mahoney
Keyword(s):  
Genetic Counseling ◽  
Prenatal Care ◽  
Classification Accuracy ◽  
Hemophilia A ◽  
Antenatal Diagnosis ◽  
Sufficient Accuracy ◽  
Blood Samples ◽  
Linear Discriminant ◽  
Normal Women ◽  
Hemophilia Carriers

The accuracy of hemophilia A carrier detection during pregnancy has been determined using combined measurement of VIII:CAg and VIIIR:Ag. These immunoassays detect determinants that are sufficiently stable in plasma that the assays could be done on frozen samples that had been obtained when women were seen for antenatal diagnosis studies (carrier women) or for routine prenatal care (controls). A linear discriminant was calculated that best separated the data for 32 normal women and 25 obligate carriers of the hemophilia gene. Twenty-three of 25 carriers (92%) and all 32 control women were correctly identified in this analysis. The overall classification accuracy (55/57, 96%) is comparable to that obtained by VIII:C and VIIIR:Ag measurements using freshly drawn blood samples in nonpregnant individuals. This study demonstrates that hemophilia A carriers can be detected during pregnancy with sufficient accuracy that the information may be used for genetic counseling.

scholarly journals Carrier detection in hemophilia A: a cooperative international study. II. The efficacy of a universal discriminant

Blood ◽  
1986 ◽  
Vol 67 (6) ◽  
pp. 1560-1567
Author(s):  
PP Green ◽  
PM Mannucci ◽  
E Briet ◽  
R Ljung ◽  
CK Kasper ◽  
...  
Keyword(s):  
Hemophilia A ◽  
International Study ◽  
Blood Type ◽  
Carrier Detection ◽  
Linear Discriminant ◽  
Normal Women ◽  
Type Data ◽  
Von Willebrand ◽  
Willebrand Factor ◽  
Linear Discriminants

Factor VIII (F.VIII) and von Willebrand factor (VWF):Ag data collected by eight laboratories on a total of 336 obligatory carriers of hemophilia A and 137 normal women were used to answer several questions concerning the construction of linear discriminants for carrier detection. It was found: that a “universal” linear discriminant can be constructed which is suitable for use in all laboratories and is nearly as effective as laboratory-specific discriminants; that inclusion of age and ABO blood type data improved the efficacy of these discriminants; that substitution of alternative assays for F.VIII and VWF:Ag did not generally improve the efficacy of the discriminants over that obtained using the bioassay for F.VIII:C and Laurell's immunoassay for VWF:Ag; that linear discriminants were far more effective than discriminants based on the F.VIII:C/VWF:Ag ratio. A step-wise procedure is given which any laboratory may follow in using the universal discriminant for carrier detection.

scholarly journals Carrier detection in hemophilia A: a cooperative international study. II. The efficacy of a universal discriminant

Blood ◽  
1986 ◽  
Vol 67 (6) ◽  
pp. 1560-1567 ◽  
Author(s):  
PP Green ◽  
PM Mannucci ◽  
E Briet ◽  
R Ljung ◽  
CK Kasper ◽  
...  
Keyword(s):  
Hemophilia A ◽  
International Study ◽  
Blood Type ◽  
Carrier Detection ◽  
Linear Discriminant ◽  
Normal Women ◽  
Type Data ◽  
Von Willebrand ◽  
Willebrand Factor ◽  
Linear Discriminants

Abstract Factor VIII (F.VIII) and von Willebrand factor (VWF):Ag data collected by eight laboratories on a total of 336 obligatory carriers of hemophilia A and 137 normal women were used to answer several questions concerning the construction of linear discriminants for carrier detection. It was found: that a “universal” linear discriminant can be constructed which is suitable for use in all laboratories and is nearly as effective as laboratory-specific discriminants; that inclusion of age and ABO blood type data improved the efficacy of these discriminants; that substitution of alternative assays for F.VIII and VWF:Ag did not generally improve the efficacy of the discriminants over that obtained using the bioassay for F.VIII:C and Laurell's immunoassay for VWF:Ag; that linear discriminants were far more effective than discriminants based on the F.VIII:C/VWF:Ag ratio. A step-wise procedure is given which any laboratory may follow in using the universal discriminant for carrier detection.

scholarly journals A model for spectroscopic food sample analysis using data sonification

2021 ◽  
Author(s):  
Hsein Kew
Keyword(s):  
Dimensionality Reduction ◽  
Classification Accuracy ◽  
Reduction Method ◽  
Real Life ◽  
Principal Component ◽  
Relevant Information ◽  
Analysis Model ◽  
Linear Discriminant ◽  
Audio Output ◽  
Dimensionality Reduction Method

AbstractIn this paper, we propose a method to generate an audio output based on spectroscopy data in order to discriminate two classes of data, based on the features of our spectral dataset. To do this, we first perform spectral pre-processing, and then extract features, followed by machine learning, for dimensionality reduction. The features are then mapped to the parameters of a sound synthesiser, as part of the audio processing, so as to generate audio samples in order to compute statistical results and identify important descriptors for the classification of the dataset. To optimise the process, we compare Amplitude Modulation (AM) and Frequency Modulation (FM) synthesis, as applied to two real-life datasets to evaluate the performance of sonification as a method for discriminating data. FM synthesis provides a higher subjective classification accuracy as compared with to AM synthesis. We then further compare the dimensionality reduction method of Principal Component Analysis (PCA) and Linear Discriminant Analysis in order to optimise our sonification algorithm. The results of classification accuracy using FM synthesis as the sound synthesiser and PCA as the dimensionality reduction method yields a mean classification accuracies of 93.81% and 88.57% for the coffee dataset and the fruit puree dataset respectively, and indicate that this spectroscopic analysis model is able to provide relevant information on the spectral data, and most importantly, is able to discriminate accurately between the two spectra and thus provides a complementary tool to supplement current methods.

scholarly journals Use of machine learning to identify autism with natural social gaze behavior (Preprint)

2021 ◽  
Author(s):  
Zhong Zhao ◽  
Haiming Tang ◽  
Xiaobin Zhang ◽  
Xingda Qu ◽  
Jianping Lu
Keyword(s):  
Machine Learning ◽  
Eye Tracking ◽  
Classification Accuracy ◽  
Autism Spectrum ◽  
Support Vector ◽  
Gaze Behavior ◽  
Linear Discriminant ◽  
Face To Face ◽  
Area Of Interest ◽  
Social Gaze

BACKGROUND Abnormal gaze behavior is a prominent feature of the autism spectrum disorder (ASD). Previous eye tracking studies had participants watch images (i.e., picture, video and webpage), and the application of machine learning (ML) on these data showed promising results in identify ASD individuals. Given the fact that gaze behavior differs in face-to-face interaction from image viewing tasks, no study has investigated whether natural social gaze behavior could accurately identify ASD. OBJECTIVE The objective of this study was to examine whether and what area of interest (AOI)-based features extracted from the natural social gaze behavior could identify ASD. METHODS Both children with ASD and typical development (TD) were eye-tracked when they were engaged in a face-to-face conversation with an interviewer. Four ML classifiers (support vector machine, SVM; linear discriminant analysis, LDA; decision tree, DT; and random forest, RF) were used to determine the maximum classification accuracy and the corresponding features. RESULTS A maximum classification accuracy of 84.62% were achieved with three classifiers (LDA, DT and RF). Results showed that the mouth, but not the eyes AOI, was a powerful feature in detecting ASD. CONCLUSIONS Natural gaze behavior could be leveraged to identify ASD, suggesting that ASD might be objectively screened with eye tracking technology in everyday social interaction. In addition, the comparison between our and previous findings suggests that eye tracking features that could identify ASD might be culture dependent and context sensitive.

Invasive Prenatal Diagnosis

2020 ◽  
Author(s):  
Kimberly Zayhowski
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Prenatal Care ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Chorionic Villus Sampling ◽  
Genetic Tests ◽  
Genetic Technologies ◽  
Invasive Techniques

Despite recent advances in genetic technologies that are making invasive prenatal diagnosis less common, amniocentesis and chorionic villus sampling (CVS) remain an integral part of prenatal care. A multitude of tests, including a variety of genetic tests, can be performed using samples collected from either procedure. Although invasive testing has limitations, many genetic conditions can only be diagnosed through invasive techniques during pregnancy. Invasive testing continues to assist patients and providers in making informed decisions regarding the care of pregnancies. This review details amniocentesis and chorionic villus sampling with a focus on genetic testing, describing why the tests are performed, the way in which they are performed, and the associated limitations and complications of the procedures.  This review 5 figures, 3 tables, and 26 references. Keywords: prenatal diagnosis, amniocentesis, chorionic villus sampling, genetic testing, genetic counseling, invasive prenatal testing, pregnancy, aneuploidy

Sex Estimation Using Geometric Morphometrics

2021 ◽  
Author(s):  
Valda Black
Keyword(s):  
Geometric Morphometrics ◽  
Classification Accuracy ◽  
Function Analysis ◽  
Dorsal Surface ◽  
Two Dimensions ◽  
Pubic Bone ◽  
Biological Anthropology ◽  
Sex Estimation ◽  
Linear Discriminant ◽  
Shape Changes

Creating and testing efficient techniques for the sex estimation of modern human skeletal remains has been a significant focus in biological anthropology. It is well established that the innominate, particularly the pubic bone, is a sexually dimorphic part of the human skeleton, but prone to fragmentation. Using modern pubic bones of known age and sex, this study aims to capture shape differences using geometric morphometrics (GMM) to test classification accuracy of segments of the pubic bone. The sample consists of 70 left adult pubic bones from the William M. Bass Donated Skeletal Collection, with 35 males and 35 females of mixed age and population affinity. Landmarks were placed on the dorsal surface of the pubic body and ischiopubic ramus to capture their overall shape in two dimensions, so the study is easily replicable and applicable. The scans were separately run through a generalized Procrustes, principal components (PCA), and canonical linear discriminant function analysis (DFA). The DFA results show high classification accuracy for the pubic body (94% males, 100% females) and the ischiopubic ramus (100% females, 97% males), with the PCA DFA allowing a researcher to explore specific shape changes driving the differentiation between groups. GMM was able to quantify and successfully discriminant the shape changes between males and females for small elements of the pubis, which can be applied to fragmentary remains and future morphological methods.

Bio-Inspired Optimization Algorithms for Arabic Handwritten Characters

2017 ◽  
pp. 897-914 ◽  
Author(s):  
Ahmed.T. Sahlol ◽  
Aboul Ella Hassanien
Keyword(s):  
Discriminant Analysis ◽  
Linear Discriminant Analysis ◽  
Random Forests ◽  
Classification Accuracy ◽  
Processing Time ◽  
Optimization Algorithms ◽  
Nearest Neighbors ◽  
Benchmark Dataset ◽  
K Nearest Neighbors ◽  
Linear Discriminant

There are still many obstacles for achieving high recognition accuracy for Arabic handwritten optical character recognition system, each character has a different shape, as well as the similarities between characters. In this chapter, several feature selection-based bio-inspired optimization algorithms including Bat Algorithm, Grey Wolf Optimization, Whale optimization Algorithm, Particle Swarm Optimization and Genetic Algorithm have been presented and an application of Arabic handwritten characters recognition has been chosen to see their ability and accuracy to recognize Arabic characters. The experiments have been performed using a benchmark dataset, CENPARMI by k-Nearest neighbors, Linear Discriminant Analysis, and random forests. The achieved results show superior results for the selected features when comparing the classification accuracy for the selected features by the optimization algorithms with the whole feature set in terms of the classification accuracy and the processing time. The experiments have been performed using a benchmark dataset, CENPARMI by k-Nearest neighbors, Linear Discriminant Analysis, and random forests. The achieved results show superior results for the selected features when comparing the classification accuracy for the selected features by the optimization algorithms with the whole feature set in terms of the classification accuracy and the processing time.

Equivalence between LDA/QR and Direct LDA

2012 ◽  
pp. 338-353
Author(s):  
Rong-Hua Li ◽  
Shuang Liang ◽  
George Baciu ◽  
Eddie Chan
Keyword(s):  
Discriminant Analysis ◽  
Dimension Reduction ◽  
Linear Discriminant Analysis ◽  
Classification Accuracy ◽  
Qr Decomposition ◽  
Linear Discriminant ◽  
Qr Algorithm ◽  
Special Cases ◽  
Benchmark Datasets ◽  
Pseudo Inverse

Singularity problems of scatter matrices in Linear Discriminant Analysis (LDA) are challenging and have obtained attention during the last decade. Linear Discriminant Analysis via QR decomposition (LDA/QR) and Direct Linear Discriminant analysis (DLDA) are two popular algorithms to solve the singularity problem. This paper establishes the equivalent relationship between LDA/QR and DLDA. They can be regarded as special cases of pseudo-inverse LDA. Similar to LDA/QR algorithm, DLDA can also be considered as a two-stage LDA method. Interestingly, the first stage of DLDA can act as a dimension reduction algorithm. The experiment compares LDA/QR and DLDA algorithms in terms of classification accuracy, computational complexity on several benchmark datasets and compares their first stages. The results confirm the established equivalent relationship and verify their capabilities in dimension reduction.

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