THE COMPARISON OF THREE METHODS FOR CHROMOSOMAL ABNORMALITY DETECTION

2006 ◽  
Vol 04 (06) ◽  
pp. 1217-1226 ◽  
Author(s):  
TIMUR S. SHAKUOV
Keyword(s):  
Clinical Practice ◽  
Chromosomal Abnormality ◽  
Array Cgh ◽  
Diagnostic Techniques ◽  
Comparative Genome Hybridization ◽  
Abnormality Detection ◽  
Edge Detector ◽  
Biochemical Method ◽  
Processing Data ◽  
In The Beginning

The connection between certain human diseases and abnormal changes in chromosomes was discovered nearly 50 years ago. However, the detection of these abnormalities turned out to be a difficult task because both microscopic technologies and biochemical diagnostic techniques have their limitations. In the beginning of the century, a method for multiple comparative genome hybridization (array CGH) was introduced and is now been widely used in clinical practice for biochemical diagnostics. The application of array CGH greatly reduces the statistical errors, but not the noise in the results. As such, the time and material expenses necessary for reliable localization of abnormal parts of chromosomes by the means of biochemical techniques, is not significantly reduced. Algorithms for localization of contrast parts in noisy sequences can improve the situation. We implemented and tested two algorithms for this purpose. The first is the "edge detector" algorithm introduced by J. Canny. The second one is the DotHelix algorithm developed by A. M. Leontovich, L. I. Brodsky, and A. E. Gorbalenya. In this paper we compare the two implementations against biochemical method in processing data produced by array CGH.

scholarly journals Controlled Attenuation Parameter for Quantification of Steatosis: Which Cut-Offs to Use?

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Roxana Sirli ◽  
Ioan Sporea
Keyword(s):  
Clinical Practice ◽  
Liver Disease ◽  
Public Health Problem ◽  
Diagnostic Techniques ◽  
Chronic Viral Hepatitis ◽  
Controlled Attenuation Parameter ◽  
Noninvasive Technique ◽  
Nonalcoholic Fatty Liver ◽  
Attenuation Parameter ◽  
The Us

Chronic liver diseases (CLDs) are a public health problem, even if frequently they are underdiagnosed. Hepatic steatosis (HS), encountered not only in nonalcoholic fatty liver disease (NAFLD) but also in chronic viral hepatitis, alcoholic liver disease, etc., plays an important role in fibrosis progression, regardless of CLD etiology; thus, detection and quantification of HS are imperative. Controlled attenuation parameter (CAP) feature, implemented in the FibroScan® device, measures the attenuation of the US beam as it passes through the liver. It is a noninvasive technique, feasible and well accepted by patients, with lower costs than other diagnostic techniques, with acceptable accuracy for HS quantification. Multiple studies have been published regarding CAP performance to quantify steatosis, but due to the heterogeneity of CLD etiologies, of steatosis prevalence, etc., it had widely variable calculated cut-off values, which in turn limited the day-to-day utility of CAP measurements in clinical practice. This paper reviews published studies trying to suggest cut-off values usable in clinical practice.

Proposal of Algorithm for Automated Chromosomal Abnormality Detection

2021 ◽  
pp. 83-86
Author(s):  
Oleksii Pysarchuk ◽  
Yurii Mironov
Keyword(s):  
Chromosomal Abnormality ◽  
Chromosome Abnormalities ◽  
Application Domain ◽  
Proof Of Concept ◽  
Abnormality Detection ◽  
Concept Application ◽  
High Level

The article considers the problem of automatic chromosome abnormalities recognition, using images of chromosomes as an input. This paper’s scope includes overview of application domain and analysis of existing solutions. A high-level algorithm for chromosome abnormalities recognition automation is proposed, and a proof-of-concept application is built on top of the algorithm.

scholarly journals Comparative Study of Exome Copy Number Variation Estimation Tools Using Array Comparative Genomic Hybridization as Control

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Yan Guo ◽  
Quanghu Sheng ◽  
David C. Samuels ◽  
Brian Lehmann ◽  
Joshua A. Bauer ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Copy Number ◽  
Array Cgh ◽  
False Positive Rate ◽  
Comparative Genomic ◽  
Comparative Genome Hybridization ◽  
Sequencing Data ◽  
Number Variation ◽  
Low Sensitivity

Exome sequencing using next-generation sequencing technologies is a cost-efficient approach to selectively sequencing coding regions of the human genome for detection of disease variants. One of the lesser known yet important applications of exome sequencing data is to identify copy number variation (CNV). There have been many exome CNV tools developed over the last few years, but the performance and accuracy of these programs have not been thoroughly evaluated. In this study, we systematically compared four popular exome CNV tools (CoNIFER, cn.MOPS, exomeCopy, and ExomeDepth) and evaluated their effectiveness against array comparative genome hybridization (array CGH) platforms. We found that exome CNV tools are capable of identifying CNVs, but they can have problems such as high false positives, low sensitivity, and duplication bias when compared to array CGH platforms. While exome CNV tools do serve their purpose for data mining, careful evaluation and additional validation is highly recommended. Based on all these results, we recommend CoNIFER and cn.MOPs for nonpaired exome CNV detection over the other two tools due to a low false-positive rate, although none of the four exome CNV tools performed at an outstanding level when compared to array CGH.

Investigation of mental retardation etiology in romanian children using clinical, cytogenetic and array-CGH diagnostic techniques

2011 ◽  
Vol 26 (S2) ◽  
pp. 898-898
Author(s):  
M. Budisteanu ◽  
A. Arghir ◽  
S.M. Chirieac ◽  
A. Tutulan-Cunita ◽  
C. Burloiu ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Array Cgh ◽  
Diagnostic Techniques ◽  
Dysmorphic Features ◽  
Microdeletion Syndromes ◽  
Important Diagnostic Tool ◽  
Underlying Causes ◽  
Neurological Features ◽  
And Behavior ◽  
Unusual Phenotype

IntroductionMental retardation (MR) is the most common developmental disability, affecting 2–3% of the general population. A major challenge in both clinical practice and research in the field of MR is to identify the underlying causes: genetic, chromosomal and environmental factors that have an influence on a person's development and behavior.ObjectiveWe present the results of our study regarding genetic abnormalities associated with mental retardation in children.MethodsA total of 180 children were studied using a diagnostic protocol based on dysmorphologic and clinical assessment. A disease, familial and personal history were noted. All patients were evaluated by clinical and paraclinical exams (including dysmorphological features, psychological tests, neurological features, neuroimagistic studies). Genetic investigations included a karyotype with GTG banding, FISH and array-CGH.ResultsA specific causes for the mental handicap was identified in 80 children (44%).These included a chromosomal abnormality in 32 cases (17%), microdeletion syndromes in 25 children (14%), recognizable syndromes in 23 (13%). Array CGH identified a 22q11 deletion in a girl with unusual phenotype for DiGeorge syndrome, a Xp21 duplication in a girl with severe phenotype (including sever mental retardation, epilepsy, dysmorphic features, genital anomalies, glaucoma, dental anomalies), and a 4p14 deletion in a girl with moderate mental retardation, dysmorphic features, diparesis, congenital heard malformation.ConclusionsWhile clinical diagnosis and conventional techniques form the mainstay of investigation of children with mental retardation, array CGH proved important diagnostic tool. Acknowledgments: National Research Program PN II, Project 42–130, CAPACITATI 29/2007–2009 Project; CNCSIS, Project 1203

Keterkaitan Mahasiswa Praktek Klinik Keperawatan Jiwa Prestasi Belajar Dengan Tingkat Kecemasan

2017 ◽  
Vol 3 (1) ◽  
pp. 82
Author(s):  
Sucipto Sucipto ◽  
Moh Alimansur
Keyword(s):  
Student Achievement ◽  
Clinical Practice ◽  
Nursing Students ◽  
Statistical Tests ◽  
Psychiatric Nursing ◽  
P Value ◽  
Cross Sectional ◽  
Nursing Clinical Practice ◽  
In The Beginning ◽  
Almost All

Environmental hospital clinic is the only source of greatest anxiety for the students of nursing (Triyana, 2002). The nursing students in the clinical practice of the hospital will experience difficulties in the beginning of practice, almost all students experience anxiety when beginning the practice (Sharif and Masoumi, 2005). Anxiety that occurs in the student will certainly affect the success of nursing clinical practice mental activity. This research is a descriptive cross sectional analytic approach. The study population is the entire third level students who will carry out the Clinical Practice Psychiatric Nursing. The sample in this study is partially third level students who will carry out the Clinical Practice Psychiatric Nursing Nursing Academy Dharma Husada Kediri academic year 2013/2014 with a sample size of 90 respondents. Statistical tests used in the study is the Spearman rho test. The results of the statistical test using the Spearman rho Spearman correlation values obtained at 0.238 with a p-value = 0.024. This result shows the p-value ;o, o5 which means there is a relationship between anxiety students with student achievement in taking psychiatric nursing care Course II.; Keyword: Anxiety, Student Achievement

Sign in / Sign up

Export Citation Format

Share Document