333 DNA screening in men families and therapeutic consequences

1995 ◽  
Vol 31 ◽  
pp. S71
Author(s):  
A. Frilling
Keyword(s):  
Therapeutic Consequences

“Aspirin - resistance”? A few critical considerations on definition, terminology, diagnosis, clinical value, natural course of atherosclerotic disease, and therapeutic consequences

VASA ◽  
2011 ◽  
Vol 40 (6) ◽  
pp. 429-438 ◽  
Author(s):  
Berent ◽  
Sinzinger
Keyword(s):  
Platelet Function ◽  
Point Of Care ◽  
Aspirin Resistance ◽  
Point Of View ◽  
Evidence Based ◽  
Platelet Function Tests ◽  
Clinical Value ◽  
Vascular Events ◽  
Therapeutic Consequences ◽  
Function Tests

Based upon various platelet function tests and the fact that patients experience vascular events despite taking acetylsalicylic acid (ASA or aspirin), it has been suggested that patients may become resistant to the action of this pharmacological compound. However, the term “aspirin resistance” was created almost two decades ago but is still not defined. Platelet function tests are not standardized, providing conflicting information and cut-off values are arbitrarily set. Intertest comparison reveals low agreement. Even point of care tests have been introduced before appropriate validation. Inflammation may activate platelets, co-medication(s) may interfere significantly with aspirin action on platelets. Platelet function and Cox-inhibition are only some of the effects of aspirin on haemostatic regulation. One single test is not reliable to identify an altered response. Therefore, it may be more appropriate to speak about “treatment failure” to aspirin therapy than using the term “aspirin resistance”. There is no evidence based justification from either the laboratory or the clinical point of view for platelet function testing in patients taking aspirin as well as from an economic standpoint. Until evidence based data from controlled studies will be available the term “aspirin resistance” should not be further used. A more robust monitoring of factors resulting in cardiovascular events such as inflammation is recommended.

scholarly journals Quantitative Evaluation of CFTR Pre-mRNA Splicing Dependent on the (TG)mTn Poly-Variant Tract

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 168
Author(s):  
Manuela Sterrantino ◽  
Andrea Fuso ◽  
Silvia Pierandrei ◽  
Sabina Maria Bruno ◽  
Giancarlo Testino ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Transmembrane Conductance Regulator ◽  
Functional Effect ◽  
Transmembrane Conductance ◽  
Therapeutic Consequences ◽  
Clinical Consequences ◽  
Exon 9 ◽  
The Many ◽  
Cystic Fibrosis Transmembrane ◽  
Exon 10

Genetic analysis in cystic fibrosis (CF) is a difficult task. Within the many causes of variability and uncertainty, a major determinant is poor knowledge of the functional effect of most DNA variants of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. In turn, knowledge of the effect of a CFTR variant has dramatic diagnostic, prognostic and, in the era of CF precision medicine, also therapeutic consequences. One of the most challenging CFTR variants is the (TG)mTn haplotype, which has variable functional effect and controversial clinical consequences. The exact quantification of the anomalous splicing of CFTR exon 10 (in the HGVS name; exon 9 in the legacy name) and, consequently, of the residual wild-type functional CFTR mRNA, should be mandatory in clinical assessment of patients with potentially pathological haplotype of this tract. Here, we present a real time-based assay for the quantification of the proportion of exon 10+/exon 10− CFTR mRNA, starting from nasal brushing. Our assay proved rapid, economic and easy to perform. Specific primers used for this assay are either disclosed or commercially available, allowing any laboratory to easily perform it. A simplified analysis of the data is provided, facilitating the interpretation of the results. This method helps to enhance the comprehension of the genotype–phenotype relationship in CF and CFTR-related disorders (CFTR-RD), crucial for the diagnosis, prognosis and personalized therapy of CF.

A Comparison of GFR Estimation Formulae in Pediatric Oncology

2018 ◽  
Vol 230 (03) ◽  
pp. 142-150
Author(s):  
Tobias Rechenauer ◽  
Jakob Zierk ◽  
Daniel Gräfe ◽  
Wolfgang Rascher ◽  
Manfred Rauh ◽  
...  
Keyword(s):  
Cystatin C ◽  
Clinical Decision Making ◽  
Estimating Equations ◽  
Clinical Decision ◽  
Chemotherapeutic Agents ◽  
Laboratory Method ◽  
Background Information ◽  
Data Set ◽  
Therapeutic Consequences ◽  
Gfr Estimation

Abstract Background Application of potentially nephrotoxic chemotherapy requires continuous monitoring of renal function for toxicity and dosing. Novel pediatric glomerular filtration rate (GFR) estimating equations including cystatin C have been proposed to enhance the reliability of GFR calculation. Materials and methods We examined a pediatric oncologic data set with a total of 363 GFR measurements. An analysis of distribution characteristics and comparison of medians was performed to compare creatinine and cystatin C-based GFR estimating formulae. Furthermore, we investigated the clinical impact of different equations in regard to therapeutic consequences. Results Significant differences in estimated GFR values were calculated depending on the applied formula (range of median GFR from 94.8 to 180.9 mL/min per 1.73 m2) which may result in different therapeutic consequences for the use of potentially nephrotoxic chemotherapeutic agents. Significant correlation for all examined formulae was identified, however there were large fluctuations among the correlation coefficients ranging from 0.254 to 1.0. Conclusion This study compares proposed pediatric GFR estimating equations in a clinical setting. It underlines the current limitations and difficulties of GFR estimation including potential dosing errors. Cystitis C-based equations can be used as alternatives to creatinine-based estimations when the appropriate laboratory method has been applied. A comparative calculator for pediatric GFR estimating equations along with background information is provided at http://gfr.pedz.de and may support clinical decision-making.

scholarly journals Editorial: Current Issues in Therapeutic Jurisprudence

2016 ◽  
Vol 16 (3) ◽  
pp. 1 ◽  
Author(s):  
David B Wexler ◽  
Michael L Perlin ◽  
Michel Vols ◽  
Pauline Spencer ◽  
Nigel Stobbs
Keyword(s):  
Drug Court ◽  
Due Process ◽  
Interdisciplinary Approach ◽  
Well Being ◽  
Unintended Consequences ◽  
Therapeutic Jurisprudence ◽  
Treatment Programs ◽  
Social Force ◽  
Therapeutic Consequences ◽  
The Us

<p><em><span style="font-family: Times New Roman;">On behalf of the guest editors of this special issue, leading scholars and practitioners in the therapeutic jurisprudence (‘TJ’) field in Australia, Europe, and the US, we congratulate QUT and the authors for a valuable contribution to the increasingly influential presence of TJ on the international stage.</span></em></p><p><em><span style="font-family: Times New Roman;">TJ had its genesis in the early 1990s as a new interdisciplinary approach to mental health law in the US, but has expanded remarkably in scope, reach and influence since then. TJ sees law as a social force which inevitably gives rise to unintended consequences, which may be either beneficial or harmful (what we have come to identify as therapeutic or anti-therapeutic consequences). These consequences flow from the operation of substantive rules, legal procedures, or from the behaviour of legal actors (such as lawyers and judges). It is in this sense that we conceive of the role of the law as a ‘therapeutic agent’. TJ researchers and practitioners typically make use of social science methods and data to study the extent to which a legal rule or practice affects the psychological well-being of the people it affects, and then explore ways in which anti-therapeutic consequences can be reduced, and therapeutic consequences enhanced, without breaching due process requirements. The jurisdiction with which TJ was most often associated in its earlier days tended to the that of the drug courts (in which the drug court team assists drug addicted offenders to break out of their cycle of offending by facilitating and supervising treatment programs as part of the court process itself) and the other so-called problem solving courts (more commonly referred to as ‘solution focussed courts’ in Australia).</span></em></p>

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