scholarly journals A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

PeerJ ◽  
2014 ◽  
Vol 2 ◽  
pp. e354 ◽  
Author(s):  
Joo Wook Ahn ◽  
Susan Bint ◽  
Melita D. Irving ◽  
Phillipa M. Kyle ◽  
Ranjit Akolekar ◽  
...  
Keyword(s):  
Chromosome Imbalance ◽  
Clinically Significant ◽  
Chromosome Microarray

scholarly journals A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

2014 ◽  
Author(s):  
Joo Wook Ahn ◽  
Susan Bint ◽  
Melita D Irving ◽  
Phillipa M Kyle ◽  
Ranjit Akolekar ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Copy Number Variants ◽  
Parental Anxiety ◽  
Testing Strategy ◽  
Full Resolution ◽  
Resolution Analysis ◽  
Chromosome Imbalance ◽  
Clinically Significant ◽  
Chromosome Microarray ◽  
Duplication Syndrome

Purpose. To design and validate a prenatal chromosome microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding the detection of imbalances of unclear prognosis that cause parental anxiety. Methods. All prenatal samples fulfilling our criteria for karyotype analysis (n=342) were tested by chromosome microarray and only copy number variants of established deletion/duplication syndrome regions and any other imbalance >3Mb were detected and reported. A retrospective full-resolution analysis of 249 of these samples was carried out to ascertain the performance of this testing strategy. Results. Using our prenatal analysis, 23/342 (6.7%) samples were found to be abnormal. Of the remaining samples, 249 were anonymized and reanalyzed at full-resolution; a further 46 regions of imbalance were detected in 44 of these traces (17.7%). None of these additional imbalances were of clear clinical significance. Conclusion. This prenatal chromosome microarray strategy detected all CNVs of clear prognostic value and did not miss any imbalances of clear clinical significance. This strategy avoided both the problems associated with interpreting imbalances of uncertain prognosis and the parental anxiety that are a result of such findings.

scholarly journals A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

2014 ◽  
Author(s):  
Joo Wook Ahn ◽  
Susan Bint ◽  
Melita D Irving ◽  
Phillipa M Kyle ◽  
Ranjit Akolekar ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Copy Number Variants ◽  
Parental Anxiety ◽  
Testing Strategy ◽  
Full Resolution ◽  
Resolution Analysis ◽  
Chromosome Imbalance ◽  
Clinically Significant ◽  
Chromosome Microarray ◽  
Duplication Syndrome

Purpose. To design and validate a prenatal chromosome microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding the detection of imbalances of unclear prognosis that cause parental anxiety. Methods. All prenatal samples fulfilling our criteria for karyotype analysis (n=342) were tested by chromosome microarray and only copy number variants of established deletion/duplication syndrome regions and any other imbalance >3Mb were detected and reported. A retrospective full-resolution analysis of 249 of these samples was carried out to ascertain the performance of this testing strategy. Results. Using our prenatal analysis, 23/342 (6.7%) samples were found to be abnormal. Of the remaining samples, 249 were anonymized and reanalyzed at full-resolution; a further 46 regions of imbalance were detected in 44 of these traces (17.7%). None of these additional imbalances were of clear clinical significance. Conclusion. This prenatal chromosome microarray strategy detected all CNVs of clear prognostic value and did not miss any imbalances of clear clinical significance. This strategy avoided both the problems associated with interpreting imbalances of uncertain prognosis and the parental anxiety that are a result of such findings.

EM of human atherosclerosis: Aortic fatty streaks with transitional lesion features

1992 ◽  
Vol 50 (1) ◽  
pp. 622-623
Author(s):  
K. Florian Klemp ◽  
J.R. Guyton
Keyword(s):  
Foam Cell ◽  
Cell Formation ◽  
Processing Technique ◽  
Foam Cell Formation ◽  
Tissue Preparation ◽  
Electron Microscopic ◽  
Extracellular Lipid ◽  
Electron Microscopic Cytochemistry ◽  
Human Atherosclerosis ◽  
Clinically Significant

The earliest distinctive lesions in human atherosclerosis are fatty streaks (FS), characterized initially by lipid-laden foam cell formation. Fibrous plaques (FP), the clinically significant lesions, differ from FS in several respects. In addition to foam cells, the FP also exhibit fibromuscular proliferation and a necrotic core region rich in extracellular lipid. The possible transition of FS into mature FP has long been debated, however. A subset of FS described by Katz etal., was intermediate in lipid composition between ordinary FS and FP. We investigated this hypothesis by electron microscopic cytochemistry by employing a tissue processing technique previously described by our laboratory. Osmium-tannic acid-paraphenylenediamine (OTAP) tissue preparation enabled ultrastructural analysis of lipid deposits to discern features characteristic of mature fibrous plaques.

Supervision: A Case Study

1977 ◽  
Vol 8 (4) ◽  
pp. 256-263
Author(s):  
Roberta Chapey ◽  
Geraldine Chapey
Keyword(s):  
Organizational Communication ◽  
Behavioral Changes ◽  
Personal Problems ◽  
Clinically Significant

Occasionally, it is the responsibility of a supervisor to help a staff speech clinician resolve professional and or personal problems that interfere with the delivery of quality services. To deal with this situation, the supervisor must be equipped with the techniques and procedures for effective organizational communication. This article presents a case study in which a speech clinician demonstrated irresponsibility in various job areas. The supervisor’s philosophy and the procedures used in managing these problems are presented. The behavioral changes suggest that the supervisor’s interventive procedures were clinically significant and warrant further investigation.

Hearing Aid Gain Usage by Children

1989 ◽  
Vol 20 (2) ◽  
pp. 149-152 ◽  
Author(s):  
Kenneth W. Berger
Keyword(s):  
Hearing Aid ◽  
Appreciable Difference ◽  
Significant Difference ◽  
Clinically Significant

Hearing aid gain usage by two groups of children was examined. No appreciable difference was noted between the groups, nor was there a clinically significant difference between gain usage by these children as compared with a sample of adult hearing aid wearers.

Tools & Resources: Impairment and Disability Web Sites

1999 ◽  
Vol 4 (6) ◽  
pp. 5-6
Keyword(s):  
Personality Disorder ◽  
Personality Disorders ◽  
Interpersonal Relationships ◽  
Web Sites ◽  
Outpatient Psychotherapy ◽  
Obsessive Compulsive ◽  
Not Otherwise Specified ◽  
Cluster B Personality Disorders ◽  
Clinically Significant ◽  
And Behavior

Abstract Personality disorders are enduring patterns of inner experience and behavior that deviate markedly from those expected by the individual's culture; these inflexible and pervasive patterns reflect issues with cognition, affectivity, interpersonal functioning and impulse control, and lead to clinically significant distress or impairment in social, occupational, or other important areas of functioning. The AMA Guides to the Evaluation of Permanent Impairment, Fourth Edition, defines two specific personality disorders, in addition to an eleventh condition, Personality Disorder Not Otherwise Specified. Cluster A personality disorders include paranoid, schizoid, and schizotypal personalities; of these, Paranoid Personality Disorder probably is most common in the legal arena. Cluster B personality disorders include antisocial, borderline, histrionic, and narcissistic personality. Such people may suffer from frantic efforts to avoid perceived abandonment, patterns of unstable and intense interpersonal relationships, an identity disturbance, and impulsivity. Legal issues that involve individuals with cluster B personality disorders often involve determination of causation of the person's problems, assessment of claims of harassment, and assessment of the person's fitness for employment. Cluster C personality disorders include avoidant, dependent, and obsessive-compulsive personality. Two case histories illustrate some of the complexities of assessing impairment in workers with personality disorders, including drug abuse, hospitalizations, and inpatient and outpatient psychotherapy.

Abstract #615: Hispanic People Achieve Clinically Significant Weight loss with Liraglutide 3.0 Mg for Weight Management

2015 ◽  
Vol 21 ◽  
pp. 121
Author(s):  
Patrick O’Neil ◽  
W. Timothy Garvey ◽  
J. Michael Gonzalez-Campoy ◽  
Pablo Mora ◽  
Rafael Violante Ortiz ◽  
...  
Keyword(s):  
Weight Loss ◽  
Weight Management ◽  
Significant Weight Loss ◽  
Hispanic People ◽  
Clinically Significant
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