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.

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

Analysis of the interventions in antineoplastic therapy by a clinical pharmacy service at a tertiary hospital in Brazil

2021 ◽  
pp. 107815522110176
Author(s):  
Camile da Rocha ◽  
Juliane Carlotto ◽  
Jose Zanis Neto
Keyword(s):  
Monoclonal Antibodies ◽  
Antineoplastic Therapy ◽  
Clinical Significance ◽  
Clinical Pharmacy ◽  
Tertiary Hospital ◽  
Clinical Pharmacy Service ◽  
Drug Related Problems ◽  
Lack Of Information ◽  
Clinically Significant ◽  
Pharmaceutical Interventions

Background Medication errors are avoidable occurrences that can assume clinically significant dimensions and impose relevant costs to the health system, especially in the context of antineoplastic therapy. Objective Assess the clinical significance and economic impacts of a clinical pharmaceutical service. This retrospective study consists of an analysis of pharmacy interventions and drug-related problems found in a review of electronic prescriptions referring to antineoplastic therapy of a public teaching tertiary hospital in Brazil. Method Retrospective descriptive study obtained from electronic records of drug-related problems and pharmaceutical interventions related to antineoplastic therapy for oncological and hematological diseases, obtained through the pharmacotherapy review service. The accepted interventions were analyzed for the financial impact generated, evaluating your direct costs. The perception of clinical significance of a random sample of interventions was ascertained by the experts' opinion, using the Delphi method. Results The most frequent problem was a “lack of information to professionals” (25.06%), “problems as to the frequency and interval of doses” (22.90%), and “medication underdosing” (16.20%). Dose adjustment (31.50%) and clarifications (30.90%) were the most frequent pharmaceutical interventions. In the second round of Delphi, experts rated 77.77% of interventions as extremely significant and very significant. The main drugs reported in the interventions were cyclophosphamide, carboplatin, methotrexate, folinic acid, and monoclonal antibodies. The savings amounted to US$1,193,970.18 and involved mainly bortezomib, dactinomycin, and monoclonal antibodies. Conclusion Clinical pharmacy services contributed to the rational use of medicines presenting clinical significance and avoiding waste of financial resources.

Timeline for Maximal Subjective Outcome Improvement After Anterior Cruciate Ligament Reconstruction

2018 ◽  
Vol 47 (10) ◽  
pp. 2501-2509 ◽  
Author(s):  
Avinesh Agarwalla ◽  
Richard N. Puzzitiello ◽  
Joseph N. Liu ◽  
Gregory L. Cvetanovich ◽  
Anirudh K. Gowd ◽  
...  
Keyword(s):  
Systematic Review ◽  
Anterior Cruciate Ligament ◽  
Acl Reconstruction ◽  
Clinical Significance ◽  
Cruciate Ligament ◽  
Return To Sport ◽  
Pubmed Database ◽  
Patient Reported ◽  
Clinically Significant ◽  
Anterior Cruciate

Background: Anterior cruciate ligament (ACL) tears are one of the most common traumatic knee injuries experienced by athletes. Return to sport is considered the pinnacle endpoint among patients receiving ACL reconstruction. However, at the time of return to sport, patients may not be participating at their previous levels of function, as defined by clinical metrics. Purpose: To establish when patients perceive maximal subjective medical improvement according to patient-reported outcome measures (PROMs). Study Design: Systematic review. Methods: A systematic review of the PubMed database was conducted to identify studies that reported sequential PROMs up to a minimum of 2 years after ACL reconstruction. Pooled analysis was conducted for PROMs at follow-up points of 3 months, 6 months, 1 year, and 2 years. Clinically significant improvement was determined between pairs of intervals with the minimal clinically important difference. Results: This review contains 30 studies including 2253 patients who underwent ACL reconstruction. Clinically significant improvement in the KOOS (Knee injury and Osteoarthritis Outcome Score) was seen up to 1 year after ACL reconstruction, but no clinical significance was noted from 1 to 2 years. Clinically significant improvement in the IKDC (International Knee Documentation Committee) and Lysholm questionnaires was seen up to 6 months postoperatively, but no clinical significance was noted beyond that. Conclusion: After ACL reconstruction, maximal subjective medical improvement is established 1 year postoperatively, with no further perceived clinical improvement beyond this time point according to current PROMs. The KOOS may be a more responsive metric to subjective improvements in this patient cohort than other patient-reported outcomes, such as the IKDC and Lysholm. Clinical Relevance: After ACL reconstruction, patients perceive interval subjective improvements until 1 year postoperatively.

The Prevalence of Ultrarapid Metabolizers of Codeine in a Diverse Urban Population

2018 ◽  
Vol 160 (3) ◽  
pp. 420-425
Author(s):  
Jordan Virbalas ◽  
Bernice E. Morrow ◽  
David Reynolds ◽  
John P. Bent ◽  
Thomas J. Ow
Keyword(s):  
New York ◽  
Census Data ◽  
Tertiary Care ◽  
Copy Number Variants ◽  
Ethnically Diverse ◽  
Cross Sectional Study ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Ultrarapid Metabolizers ◽  
Clinically Significant

Objective To examine the prevalence of ultrarapid metabolizers of codeine among children in an ethnically diverse urban community. Study Design Cross-sectional study. Setting A tertiary care academic children’s hospital in the Bronx, New York. Subjects and Methods In total, 256 children with nonsyndromic congenital sensorineural hearing loss were analyzed. DNA was assessed for 63 previously described single-nucleotide polymorphisms (SNPs) and copy number variants (CNVs) known to alter the function and expression of the CYP2D6 gene primarily responsible for codeine metabolism. The rate of CYP2D6 metabolism was predicted based on participants’ haplotype. Results Ethnic distribution in the study subjects paralleled recent local census data, with the largest portion (115 children, 45.8%) identified as Hispanic or Latino. A total of 154 children (80.6%) had a haplotype that corresponds to extensive codeine metabolism, 18 children (9.42%) were identified as ultrarapid metabolizers (UMs), and 16 children (8.37%) were intermediate metabolizers. Only 3 children in our cohort (1.57%) were poor metabolizers. Patients identifying as Caucasian or Hispanic had an elevated incidence of UMs (11.3% and 11.2%, respectively) with extensive variability within subpopulations. Conclusions The clinically significant rate of ultrarapid metabolizers reinforces safety concerns regarding the use of codeine and related opiates. A patient-targeted approach using pharmacogenomics may mitigate adverse effects by individualizing the selection and dosing of these analgesics.

Psychiatrists' accounts of clinical significance in depression

2012 ◽  
Vol 43 (2) ◽  
pp. 101-111
Author(s):  
Dariusz Galasiński
Keyword(s):  
Mental Illness ◽  
Discourse Analysis ◽  
Diagnostic Criteria ◽  
Clinical Significance ◽  
Psychiatric Diagnosis ◽  
Structured Interviews ◽  
Convenience Sample ◽  
Discursive Space ◽  
Significant Depression ◽  
Clinically Significant

Psychiatrists' accounts of clinical significance in depression Clinical significance is a crucial element in the diagnosis of mental illness, yet, it is practically untheorised and significantly under-researched. This article takes up the question of how the criterion of clinical significance is translated into psychiatric practice. More particularly, it examines how psychiatrists account for the threshold between health and depression. The paper is anchored in the constructionist view of discourse underpinned by the assumptions of critically oriented discourse analysis. It is based upon a convenience sample of 39 semi-structured interviews with specialist-psychiatrists in south-western Poland. There is no discursive space for clinical significance in psychiatrists' accounts. There is no boundary, no decision to be taken as to whether the symptoms are clinically significant. Depression, invariably constructed in terms of diagnostic criteria, is always represented as fully developed, appearing out of thin air, with no period of falling ill. The article raises the issue of the validity and usefulness of psychiatric diagnosis.

scholarly journals Clinical significance of lipohypertrophy without visual and palpable changes detected by ultrasonography of subcutaneous fat

2019 ◽  
Vol 91 (4) ◽  
pp. 62-66 ◽  
Author(s):  
N I Volkova ◽  
I Yu Davidenko
Keyword(s):  
Body Mass Index ◽  
Clinical Significance ◽  
Hba1c Level ◽  
Fasting Glucose ◽  
Subcutaneous Fat ◽  
Postprandial Glucose ◽  
Diabetic Patients ◽  
Clinically Significant ◽  
The Moment ◽  
Basal Bolus

Aim. To estimate clinical significance of lipohypertrophy (LH) without visual and palpable changes, detected by ultrasonography of subcutaneous fat. Materials and methods. This study included 140 diabetic patients who received insulin in basal-bolus regimen. Ultrasonography of subcutaneous fat was performed for LH diagnostics in these diabetic patients. Than clinical significance of LH without visual and palpable changes was estimated. HbA1c level, fasting and postprandial glucose, episodes of hypoglycemia, body mass index (BMI) and scheme of insulinotherapy were evaluated at the moment of LH, after 3 and 6 months in all patients. Results and discussion. After changing injection sites, good results were demonstrated by measuring glucose and HbA1c level. Thus fasting glucose decreased from 9.03±1.98 mmol/l to 7.11±0.95 mmol/l (p=0.023). Postprandial glucose reduced from 10.27±2.72 mmol/l to 9.34±1.21 mmol/l (p=0.011). HbA1c level reduced from 9.27±1.75% to 7.43±1.02% (p=0.002). Also BMI decreased from 33.75±3.49 kg/m2 to 30.5±2.96 kg/m2 (p=0.018). Conclusion. LH without visual and palpable changes could worsen compensation of glycemic control and leads to hypoglycemia and chronic Somogyi rebound. So, LH without visual and palpable is as important and clinically significant as classic LH.

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