scholarly journals Nonresponse to high-dose bupropion for depression in a patient carrying CYP2B6*6 and CYP2C19*17 variants: a case report

2020 ◽  
Vol 21 (16) ◽  
pp. 1145-1150
Author(s):  
Céline K Stäuble ◽  
Markus L Lampert ◽  
Thorsten Mikoteit ◽  
Martin Hatzinger ◽  
Kurt E Hersberger ◽  
...  
Keyword(s):  
Case Report ◽  
Major Depression ◽  
Genetic Variants ◽  
Active Metabolite ◽  
Potential Benefit ◽  
Combined Effect ◽  
High Dose ◽  
Blood Concentrations ◽  
Panel Testing ◽  
Pharmacologically Active

We report the case of a patient with major depression treated with high-dose bupropion due to prior detected subtherapeutic blood concentrations at standard dosing. Pharmacogenetic panel testing identified the patient as a carrier of the CYP2B6*6 allele, which has been associated with reduced bupropion metabolism and decreased concentrations of the pharmacologically active metabolite hydroxybupropion. Interestingly, we also found the patient to be homozygous for the CYP2C19*17 allele, predicting an ultra rapid metabolizer phenotype. We propose a combined effect of the detected CYP2C19 and CYP2B6 genetic variants on bupropion metabolism. This case underlines the potential benefit of pre-emptive pharmacogenotyping but also the yet still fragmentary evidence making precise pharmacogenotype guided antidepressant selection and dosing challenging.

scholarly journals Severe Adverse Drug Reactions to Quetiapine in Two Patients Carrying CYP2D6*4 Variants: A Case Report

2021 ◽  
Vol 22 (12) ◽  
pp. 6480
Author(s):  
Céline K. Stäuble ◽  
Markus L. Lampert ◽  
Thorsten Mikoteit ◽  
Martin Hatzinger ◽  
Kurt E. Hersberger ◽  
...  
Keyword(s):  
Cytochrome P450 ◽  
Case Report ◽  
Adverse Drug Reactions ◽  
Active Metabolite ◽  
Hepatic Metabolism ◽  
Cytochrome P450 3A4 ◽  
Drug Reactions ◽  
Drug Induced ◽  
Potential Impact ◽  
Intermediate Metabolizer

We report two cases of patients who developed severe adverse drug reactions including persistent movement disorders, nausea, and vertigo during treatment with quetiapine at maximum daily doses ranging between 300 and 400 mg. The extensive hepatic metabolism of quetiapine is mainly attributed to cytochrome P450 3A4 (CYP3A4). However, there is recent evidence supporting the idea of CYP2D6 playing a role in the clearance of the quetiapine active metabolite norquetiapine. Interestingly, both patients we are reporting of are carriers of the CYP2D6*4 variant, predicting an intermediate metabolizer phenotype. Additionally, co-medication with a known CYP2D6 inhibitor and renal impairment might have further affected quetiapine pharmacokinetics. The herein reported cases could spark a discussion on the potential impact of a patient’s pharmacogenetic predisposition in the treatment with quetiapine. However, further studies are warranted to promote the adoption of pharmacogenetic testing for the prevention of drug-induced toxicities associated with quetiapine.

The role of cytochrome P450 enzyme genetic variants in cannabis hyperemesis syndrome—A case report

2021 ◽  
Author(s):  
Maxim Kuzin ◽  
Franziskos Xepapadakos ◽  
Isabel Scharrer ◽  
Marc Augsburger ◽  
Chin‐Bin Eap ◽  
...  
Keyword(s):  
Cytochrome P450 ◽  
Case Report ◽  
Genetic Variants ◽  
Cytochrome P450 Enzyme ◽  
P450 Enzyme ◽  
Cannabis Hyperemesis Syndrome

scholarly journals Assessing Genetic Variants in Matched Biocompartments From Patients With Serous Ovarian Cancer

2021 ◽  
Vol 20 ◽  
pp. 153303382110279
Author(s):  
Brooke E. Sanders ◽  
Lisa Ku ◽  
Paul Walker ◽  
Benjamin G. Bitler
Keyword(s):  
Ovarian Cancer ◽  
Genetic Variants ◽  
Mutant Allele ◽  
Serous Ovarian Cancer ◽  
Brca Testing ◽  
Panel Testing ◽  
University Of Colorado ◽  
Gene Panel Testing ◽  
The University ◽  
Tumor Profiling

The clinical use of molecular tumor profiling (MTP) is expanding and there is an increasing use of MTP data to manage patient care. At the University of Colorado, 18 patients were diagnosed with primary serous ovarian cancer between 9/2015 and 6/2019 and consented for banking and analysis of tumor, ascites and plasma. All 18 patients had tumor and plasma samples that were sent for MTP, and 13 of 18 patients additionally had ascites collected and sent for MTP. 50-gene panel testing and BRCA testing were performed on primary tumor. BRCA genetic variants were more likely to be identified in plasma as compared to ascites or tumor, though not statistically significant ( P = 0.17). Co-occurring genetic variants between plasma and ascites were less common in comparison to co-occurring variants between tumor and plasma or tumor and ascites, though not statistically significant ( P = 0.68). Variants in KDR (VEGFR2) and TP53 were most likely to be conserved across all 3 biocompartments. Mutant allele frequencies (MAF) of individual genetic variants varied across biocompartments, though tended to be highest in the tumor, followed by ascites.

Refractory eosinophilic fasciitis successfully treated with infliximab: A case report

2021 ◽  
pp. 239719832110043
Author(s):  
Paulina Śmigielska ◽  
Justyna Czarny ◽  
Jacek Kowalski ◽  
Aleksandra Wilkowska ◽  
Roman J. Nowicki
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Treatment Failure ◽  
Immunosuppressive Drugs ◽  
Unknown Etiology ◽  
High Dose ◽  
Eosinophilic Fasciitis ◽  
Line Treatment ◽  
First Line ◽  
First Line Treatment

Eosinophilic fasciitis is a rare connective tissue disease of unknown etiology. Therapeutic options include high-dose corticosteroids and other immunosuppressive drugs. We present a typical eosinophilic fasciitis case, which did not respond to first-line treatment, but improved remarkably after infliximab administration. This report demonstrates that in case of initial treatment failure, infliximab might be a relatively safe and effective way of eosinophilic fasciitis management.

scholarly journals COVID‐19 reinfection in a healthcare worker after exposure with high dose of virus: A case report

2021 ◽  
Vol 9 (6) ◽  
Author(s):  
Shahram Ahmadian ◽  
Hadis Fathizadeh ◽  
Saeid Shabestari Khiabani ◽  
Mohammad Asgharzadeh ◽  
Hossein Samadi Kafil
Keyword(s):  
Case Report ◽  
Healthcare Worker ◽  
High Dose

scholarly journals Nonepileptic Myoclonus in COVID-19: Case Report

2021 ◽  
pp. 194187442110043
Author(s):  
Henly Hewan ◽  
Annie Yang ◽  
Aparna Vaddiparti ◽  
Benison Keung
Keyword(s):  
Case Report ◽  
Critically Ill ◽  
Recovery Phase ◽  
Critically Ill Patient ◽  
High Dose ◽  
The Novel ◽  
Neurological Manifestations ◽  
Immune Mediated ◽  
Novel Coronavirus ◽  
Post Infectious

In late 2019, the novel coronavirus, SARS-CoV-2, and the disease it causes, COVID-19, was identified. Since then many different neurological manifestations of COVID-19 have been well reported. Movement abnormalities have been rarely described. We report here a critically ill patient with COVID-19 who developed generalized myoclonus during the recovery phase of the infection. Myoclonus was associated with cyclical fevers and decreased alertness. Movements were refractory to conventional anti-epileptic therapies. There was concern that myoclonus could be part of a post-infectious immune-mediated syndrome. The patient improved fully with a 4-day course of high-dose steroids. Our experience highlights a rare, generalized myoclonus syndrome associated with COVID-19 that may be immune-mediated and is responsive to treatment.

scholarly journals Pacemaker implantation in patients with major depression, should it be of concern? A case report and literature review

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Xiaoru Che ◽  
Youssef S. Abdelwahed ◽  
Xiaoyu Wang ◽  
Yuanjian Fang ◽  
Lihong Wang
Keyword(s):  
Case Report ◽  
Major Depression ◽  
Literature Review ◽  
Pacemaker Implantation
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