scholarly journals Pharmacogenetics and Forensic Toxicology: A New Step towards a Multidisciplinary Approach

Toxics ◽  
2021 ◽  
Vol 9 (11) ◽  
pp. 292
Author(s):  
Nunzio Di Nunno ◽  
Massimiliano Esposito ◽  
Antonina Argo ◽  
Monica Salerno ◽  
Francesco Sessa

Pharmacogenetics analyzes the individual behavior of DNA genes after the administration of a drug. Pharmacogenetic research has been implemented in recent years thanks to the improvement in genome sequencing techniques and molecular genetics. In addition to medical purposes, pharmacogenetics can constitute an important tool for clarifying the interpretation of toxicological data in post-mortem examinations, sometimes crucial for determining the cause and modality of death. The purpose of this systematic literature review is not only to raise awareness among the forensic community concerning pharmacogenetics, but also to provide a workflow for forensic toxicologists to follow in cases of unknown causes of death related to drug use/abuse. The scientific community is called on to work hard in order to supply evidence in forensic practice, demonstrating that this investigation could become an essential tool both in civil and forensic contexts. The following keywords were used for the search engine: (pharmacogenetics) AND (forensic toxicology); (pharmacogenetics) AND (post-mortem); (pharmacogenetics) AND (forensic science); and (pharmacogenetics) AND (autopsy). A total of 125 articles were collected. Of these, 29 articles were included in this systematic review. A total of 75% of the included studies were original articles (n = 21) and 25% were case reports (n = 7). A total of 78% (n = 22) of the studies involved deceased people for whom a complete autopsy was performed, while 22% (n = 6) involved people in good health who were given a drug with a subsequent pharmacogenetic study. The most studied drugs were opioids (codeine, morphine, and methadone), followed by antidepressants (tricyclic antidepressants and venlafaxine). Furthermore, all studies highlighted the importance of a pharmacogenetics study in drug-related deaths, especially in cases of non-overdose of drugs of abuse. This study highlights the importance of forensic pharmacogenetics, a field of toxicology still not fully understood, which is of great help in cases of sudden death, deaths from overdose, deaths after the administration of a drug, and also in cases of complaint of medical malpractice.

2016 ◽  
Author(s):  
Mihály Földvári

ABSTRACTImmature stages of flies are paramount in establishing the post-mortem interval (PMI) in forensic practice. My focus is on differences in developmental time that can be influenced by genetic differences or individual life history traits, which latter may be interpreted as life history decisions.Data of a calliphorid fly species (Lucilia ampullacea) are presented: one female produced 300 eggs within an hour and the individual developmental time varied subsequently to a great extent – when the first flies emerged from their puparia there were still first instar larvae in the food (pig liver) provided.In conclusion the estimated PMI must be based on a wide range of collected flies (not simply the oldest or largest or widest individual), since a limited sample can be one extremity of a potentially bell shaped (Gaussian) frequency distribution of developmental times — unrepresentative sampling will bias the PMI in an unpredictable way. One possible solution can be to use large, randomized samples and their body measurement means.


2020 ◽  
Vol 16 (7) ◽  
pp. 872-879
Author(s):  
Samin Hamidi

Background: Abuse of drugs is associated with several medical, forensic, toxicology and social challenges. “Drugs of abuse” testing is therefore an important issue. Objective: We propose a simple CE-based method for the quantification of amphetamine, codeine and morphine after direct injection of Exhaled Breath Condensate (EBC) by the aid of simple stacking mode and an off-line pre-concentration method. Methods: Using graphene oxide adsorbents, amphetamine, codeine and morphine were extracted from EBC in order to eliminate the proteins and other interferences. In addition to off-line method, an online stacking mode was applied to improve the analytical signal obtained from the instrument. Results: The validation parameters were experimented on the developed method based on the FDA guideline over concentration ranges of 12.5-100, 30-500 and 10-1250 ng/mL associated with amphetamine, codeine and morphine, respectively. Small volumes (around 100 μL) of EBC were collected using a lab-made setup and successfully analyzed using the proposed method where precisions and accuracies (within day and between days) were in accordance with the guideline (recommended less than 15 % for biological samples). The recovery tests were used to evaluate the matrix effect and data (94 to 105 %) showed that the proposed method can be applied in different EBC matrix samplings of subjects. Conclusion: The proposed method is superior for simultaneous determination of amphetamine, codeine and morphine over chromatographic analyses because it is fast and consumes fewer chemicals, with no derivatization step.


Metabolites ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 166
Author(s):  
Andrea E. Steuer ◽  
Justine Raeber ◽  
Fabio Simbuerger ◽  
Dario A. Dornbierer ◽  
Oliver G. Bosch ◽  
...  

In forensic toxicology, gamma-hydroxybutyrate (GHB) still represents one of the most challenging drugs of abuse in terms of analytical detection and interpretation. Given its rapid elimination, the detection window of GHB in common matrices is short (maximum 12 h in urine). Additionally, the differentiation from naturally occurring endogenous GHB, is challenging. Thus, novel biomarkers to extend the detection window of GHB are urgently needed. The present study aimed at searching new potential biomarkers of GHB use by means of mass spectrometry (MS) metabolomic profiling in serum (up to 16.5 h) and urine samples (up to 8 h after intake) collected during a placebo-controlled crossover study in healthy men. MS data acquired by different analytical methods (reversed phase and hydrophilic interaction liquid chromatography; positive and negative electrospray ionization each) were filtered for significantly changed features applying univariate and mixed-effect model statistics. Complementary to a former study, conjugates of GHB with glycine, glutamate, taurine, carnitine and pentose (ribose) were identified in urine, with particularly GHB-pentose being promising for longer detection. None of the conjugates were detectable in serum. Therein, mainly energy metabolic substrates were identified, which may be useful for more detailed interpretation of underlying pathways but are too unspecific as biomarkers.


2021 ◽  
Vol 9 ◽  
Author(s):  
Yang Chen ◽  
Yiting Mao ◽  
Xingfeng Cheng ◽  
Ruihua Xiong ◽  
Ying Lan ◽  
...  

Background: Bronchial Dieulafoy's disease (BDD), characterized by constant diameter arterial malformation, is rare, especially among infants. The pathogenesis and clinical features of pediatric patients are unknown. Misdiagnosis and biopsy operations may lead to potential massive hemorrhage, which endangers the patient's life.Case Presentation: Here, we present a case of a 9-month-old boy who was diagnosed with BDD with massive hemoptysis. The boy was cured by embolization of the bronchial artery and was in good health at the 1-year follow-up. In addition, we searched PubMed, Google Scholar, and Web of Science databases using keyword “Bronchial Dieulafoy's Disease (BDD)” and found six additional cases of pediatric BDD.Conclusion: It is still insufficient to draw a conclusion about the origin of the disease. Bronchial angiography and endobronchial ultrasonography are considered promising methods to diagnose Dieulafoy's disease of the bronchus. Bronchoscopy with transbronchial biopsy should not be deployed due to the high risk of fatal hemorrhage. Explicit clinical case reports of BDD are needed to enhance the understanding of this rare disease.


2021 ◽  
Vol 2 (5) ◽  
pp. 418-424
Author(s):  
Stefan Koppert ◽  
Michael Weibenbacher ◽  
Andreas Wieser ◽  
Christoph Zelger ◽  
Markus Hermann ◽  
...  

Background: With the intention to quantify the importance of a medical journal, the Impact Factor (IF) was introduced. It has become a de facto fictive rating instrument of the importance of medical journals. Also, it is often used to assess the value of the individual publications within the specific journal. The aim of the present study was to analyze publication trends over 20 years in five high-ranked anesthesiology journals. Methods: The Medline (NCBI) database PubMed was used for analysis which was restricted to the following journals: 1. Anesthesiology; 2. British Journal of Anaesthesia; 3. Journal of Neurosurgical Anesthesiology; 4. Anesthesia & Analgesia; and 5. Anaesthesia. Specific publication parameters (IFs, number of pages and authors, etc.) were retrieved using the PubMed download function and imported into Microsoft Excel for further analysis. Results: The mean IF of the five journals analyzed increased significantly within the study period (1991 vs. 2010; +61.81%). However, the absolute number of case reports decreased significantly by 54.7% since 1991. The journals Br J Anaesth (12.2%), J Neurosurg Anesthesiol (51.9%), and Anesth Analg (57.2%) showed significant increases in the number of publications per year. The mean number of authors increased significantly in all the journals from 1991 to 2010 (3.0 vs. 4.3; +43.3%). Conclusions: The IF, as well as the number of articles per year and the number of authors per article, increased significantly. In contrast, the number of pages per article remained comparable during the period analyzed.


Marine Drugs ◽  
2021 ◽  
Vol 19 (9) ◽  
pp. 520
Author(s):  
Nathalie Arnich ◽  
Eric Abadie ◽  
Zouher Amzil ◽  
Marie-Yasmine Dechraoui Bottein ◽  
Katia Comte ◽  
...  

Brevetoxins (BTXs) are marine biotoxins responsible for neurotoxic shellfish poisoning (NSP) after ingestion of contaminated shellfish. NSP is characterized by neurological, gastrointestinal and/or cardiovascular symptoms. The main known producer of BTXs is the dinoflagellate Karenia brevis, but other microalgae are also suspected to synthesize BTX-like compounds. BTXs are currently not regulated in France and in Europe. In November 2018, they have been detected for the first time in France in mussels from a lagoon in the Corsica Island (Mediterranean Sea), as part of the network for monitoring the emergence of marine biotoxins in shellfish. To prevent health risks associated with the consumption of shellfish contaminated with BTXs in France, a working group was set up by the French Agency for Food, Environmental and Occupational Health & Safety (Anses). One of the aims of this working group was to propose a guidance level for the presence of BTXs in shellfish. Toxicological data were too limited to derive an acute oral reference dose (ARfD). Based on human case reports, we identified two lowest-observed-adverse-effect levels (LOAELs). A guidance level of 180 µg BTX-3 eq./kg shellfish meat is proposed, considering a protective default portion size of 400 g shellfish meat.


PEDIATRICS ◽  
1978 ◽  
Vol 61 (2) ◽  
pp. 318-318
Author(s):  
J. Le Beau ◽  
T. E. C.

I believe this is one of the earliest case reports of precocious puberty in American medical literature. I take the liberty to acquaint you with an extraordinary case of prematurity in a child, which fell under my observation in this city. Matilda H. was born of a white family in low circumstances, the 31st of September, 1827. She came into this world with her mammae perfectly formed, and the mons veneris covered with hair, as much as a girl between thirteen and fourteen years old; when precisely three years of age the menses made their appearance, and have continued to reappear regularly every month until the present time, and as copious as any woman might have them-each period lasting four days. She is now four years and five months old; she measures forty-two inches and a half in height, French measure; her features are regular; she has a rosy complexion; her hair chestnut colour; her eyes bluish-gray; she is what may be called handsome; and conformation of her body is very strong; her mammae are now of the size of a full-grown orange, and the dimensions of the pelvis are, in my opinion, such as to enable her to bear children when eight years old, and very likely sooner. She constantly enjoys good health.


Pharmacy ◽  
2019 ◽  
Vol 7 (3) ◽  
pp. 110 ◽  
Author(s):  
Yuman Lee ◽  
Nicole Bradley

Understanding antibiotic allergies and the risk of cross-sensitivity between and within antibiotic classes can have a substantial impact on patient care. The purpose of this review article is to provide insight into carbapenem allergies, describing the overall incidence, risk factors, and in-class cross-sensitivity. A PubMed search was conducted using the following search terms: carbapenem, allergy, cross-sensitivity, incidence, imipenem/cilastatin, meropenem, ertapenem, and doripenem. Article bibliographies and relevant drug monographs were also reviewed. The overall reported incidence of carbapenem allergy is 0.3%–3.7%. Risk of cross-sensitivity between penicillins and carbapenems is less than 1% in patients with a positive penicillin skin test. Data on cross-sensitivity between cephalosporins and carbapenems are limited; however, the risk appears to also be low. No clinical studies have described cross-sensitivity between the carbapenem agents thus far. The limited data available from case reports demonstrates a lack of cross-sensitivity between the individual carbapenems, suggesting that an alternative carbapenem may cautiously be used in patients with a reported carbapenem allergy.


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