Determination of sensitivity and specificity of a novel gene dosage assay for prenatal screening of trisomy 21 syndrome

2012 ◽  
Vol 45 (3) ◽  
pp. 267-271 ◽  
Author(s):  
Ahmad Reza Kamyab ◽  
Fahimeh Shahrokhi ◽  
Elmira Shamsian ◽  
Mina Hayat Nosaied ◽  
Parvin Dibajnia ◽  
...  
Keyword(s):  
Sensitivity And Specificity ◽  
Trisomy 21 ◽  
Prenatal Screening ◽  
Gene Dosage ◽  
Novel Gene

scholarly journals Characterization of Caenorhabditis elegans Homologs of the Down Syndrome Candidate Gene DYRK1A

Genetics ◽  
2003 ◽  
Vol 163 (2) ◽  
pp. 571-580 ◽  
Author(s):  
William B Raich ◽  
Celine Moorman ◽  
Clay O Lacefield ◽  
Jonah Lehrer ◽  
Dusan Bartsch ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Caenorhabditis Elegans ◽  
Trisomy 21 ◽  
Gene Dosage ◽  
Inducible Promoters ◽  
C Elegans ◽  
Dual Specificity ◽  
Specificity Protein

Abstract The pathology of trisomy 21/Down syndrome includes cognitive and memory deficits. Increased expression of the dual-specificity protein kinase DYRK1A kinase (DYRK1A) appears to play a significant role in the neuropathology of Down syndrome. To shed light on the cellular role of DYRK1A and related genes we identified three DYRK/minibrain-like genes in the genome sequence of Caenorhabditis elegans, termed mbk-1, mbk-2, and hpk-1. We found these genes to be widely expressed and to localize to distinct subcellular compartments. We isolated deletion alleles in all three genes and show that loss of mbk-1, the gene most closely related to DYRK1A, causes no obvious defects, while another gene, mbk-2, is essential for viability. The overexpression of DYRK1A in Down syndrome led us to examine the effects of overexpression of its C. elegans ortholog mbk-1. We found that animals containing additional copies of the mbk-1 gene display behavioral defects in chemotaxis toward volatile chemoattractants and that the extent of these defects correlates with mbk-1 gene dosage. Using tissue-specific and inducible promoters, we show that additional copies of mbk-1 can impair olfaction cell-autonomously in mature, fully differentiated neurons and that this impairment is reversible. Our results suggest that increased gene dosage of human DYRK1A in trisomy 21 may disrupt the function of fully differentiated neurons and that this disruption is reversible.

scholarly journals Efficiency of non-invasive prenatal screening in pregnant women at advanced maternal age

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hui Zhu ◽  
Xiaoxiao Jin ◽  
Yuqing Xu ◽  
Weihua Zhang ◽  
Xiaodan Liu ◽  
...  
Keyword(s):  
High Risk ◽  
Pregnant Women ◽  
Predictive Value ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Prenatal Screening ◽  
Advanced Maternal Age ◽  
Youden Index ◽  
Non Invasive ◽  
Sensitivity Specificity

Abstract Background Non-invasive prenatal screening (NIPS) is widely used as the alternative choice for pregnant women at high-risk of fetal aneuploidy. However, whether NIPS has a good detective efficiency for pregnant women at advanced maternal age (AMA) has not been fully studied especially in Chinese women. Methods Twenty-nine thousand three hundred forty-three pregnant women at AMA with singleton pregnancy who received NIPS and followed-up were recruited. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV), receiver operating characteristic (ROC) curves and the Youden Index for detecting fetal chromosomal aneuploidies were analyzed. The relationship between maternal age and common fetal chromosomal aneuploidy was observed. Results The sensitivity, specificity, PPV, NPV of NIPS for detecting fetal trisomy 21 were 99.11, 99.96, 90.98, and 100%, respectively. These same parameters for detecting fetal trisomy 18 were 100, 99.94, 67.92, and 100%, respectively. Finally, these parameters for detecting trisomy 13 were 100, 99.96, 27.78, and 100%, respectively. The prevalence of fetal trisomy 21 increased exponentially with maternal age. The high-risk percentage incidence rate of fetal trisomy 21 was significantly higher in the pregnant women at 37 years old or above than that in pregnant women at 35 to 37 years old. (Youden index = 37). Conclusion It is indicated that NIPS is an effective prenatal screening method for pregnant women at AMA.

scholarly journals Optimization of regional median equations of prenatal screening markers for trisomy 21 in a Chinese population

Medicine ◽  
2018 ◽  
Vol 97 (35) ◽  
pp. e12045
Author(s):  
Liangpu Xu ◽  
Hailong Huang ◽  
Lin Zheng ◽  
Deqin He ◽  
Na Lin ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Chinese Population ◽  
Prenatal Screening

Rapid determination of trisomy 21 from amniotic fluid cells using single-nucleotide polymorphic loci

2005 ◽  
Vol 25 (12) ◽  
pp. 1138-1141 ◽  
Author(s):  
Bálint Nagy ◽  
Zoltán Bán ◽  
Levente Lázár ◽  
Richárd Gyula Nagy ◽  
Csaba Papp ◽  
...  
Keyword(s):  
Amniotic Fluid ◽  
Trisomy 21 ◽  
Rapid Determination ◽  
Single Nucleotide Polymorphic ◽  
Single Nucleotide ◽  
Polymorphic Loci ◽  
Amniotic Fluid Cells

Child Abuse

PEDIATRICS ◽  
1990 ◽  
Vol 86 (5) ◽  
pp. 805-806
Author(s):  
ALLAN R. DE JONG ◽  
MIMI ROSE
Keyword(s):  
Sexual Abuse ◽  
Child Abuse ◽  
Sensitivity And Specificity ◽  
Gold Standard ◽  
Child Protective Services ◽  
Iron Pyrite ◽  
Protective Services ◽  
Physical Evidence

In Reply.— We thank Dr Smith for his interesting perspective regarding screening for child abuse. We had hoped our article would help physicians focus on the verbal evidence of abuse and show how insensitive the physical evidence is in predicting which child had been abused sexually. To apply the principles of sensitivity and specificity to the assessment of child abuse or sexual abuse, we must have a gold standard which characterizes these problems. Neither a child protective services decision nor a legal determination of "no proven abuse" can be used as a gold standard, unless we can accept a "gold standard" made of iron pyrite.

scholarly journals Red-lesion extraction in retinal fundus images by directional intensity changes’ analysis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Maryam Monemian ◽  
Hossein Rabbani
Keyword(s):  
Sensitivity And Specificity ◽  
Retinal Disease ◽  
Extraction Process ◽  
Efficient Performance ◽  
Intensity Changes ◽  
Significant Intensity ◽  
Almost All ◽  
Retinal Fundus ◽  
Distinguishing Features

AbstractDiabetic retinopathy (DR) is an important retinal disease threatening people with the long diabetic history. Blood leakage in retina leads to the formation of red lesions in retina the analysis of which is helpful in the determination of severity of disease. In this paper, a novel red-lesion extraction method is proposed. The new method firstly determines the boundary pixels of blood vessel and red lesions. Then, it determines the distinguishing features of boundary pixels of red-lesions to discriminate them from other boundary pixels. The main point utilized here is that a red lesion can be observed as significant intensity changes in almost all directions in the fundus image. This can be feasible through considering special neighborhood windows around the extracted boundary pixels. The performance of the proposed method has been evaluated for three different datasets including Diaretdb0, Diaretdb1 and Kaggle datasets. It is shown that the method is capable of providing the values of 0.87 and 0.88 for sensitivity and specificity of Diaretdb1, 0.89 and 0.9 for sensitivity and specificity of Diaretdb0, 0.82 and 0.9 for sensitivity and specificity of Kaggle. Also, the proposed method has a time-efficient performance in the red-lesion extraction process.

Odontogenic Sinusitis Index (OSI)

2021 ◽  
Vol 20 (5) ◽  
pp. 58-62
Author(s):  
S. Yu. Naumov ◽  
◽  
S. A. Artyushkin ◽  
O. A. Drozdova ◽  
M. A. Aflitonov ◽  
...  
Keyword(s):  
Data Analysis ◽  
Sensitivity And Specificity ◽  
Specificity And Sensitivity ◽  
Odontogenic Sinusitis ◽  
Simple Summation

The criteria for «odontogenic sinusitis» (OS) with the highest values of specificity and sensitivity were identified. An integral odontogenicity sinusitis index (OSI) was developed based on the identified criteria. To measure the sensitivity and specificity of the criteria, a group of 261 patients was selected (113 women (43.29%), 148 men (56.70%), the average age of the patients was 36 years), consisting of 150 known to have OS and 111 patients who were known to be without OS. As a result of data analysis, the values of sensitivity and specificity were obtained for all 13 criteria. Based on the sensitivity and specificity values, all criteria were combined into an odontogenicity sinusitis index (OSI) and divided into «minor» and «major». The “large” criteria were assigned a significance point of 2, and for the “small” criteria, a significance point of 1. The determination of the odontogenic nature of sinusitis was carried out by a simple summation of the points assigned to patients during the survey, examination, and analysis of CT criteria. An odontogenic cause of sinusitis is recognized if there is a minimum of 4 points of significance, for example, one “large” (2 points) and two “small” (1 point each) criteria. The general sensitivity of the integral OSI index was 93%, the general specificity was 94%. These rates are high enough that OSI can be used to determine the «odontogenic» nature of sinusitis.

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