scholarly journals Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report

2016 ◽  
Vol 5 (1) ◽  
pp. 23-26 ◽  
Author(s):  
NA SUN ◽  
PENG CHENG ◽  
DONG-HONG DENG ◽  
RONG-RONG LIU ◽  
YONG-RONG LAI
Keyword(s):  
Case Report ◽  
Genetic Variants ◽  
Hemoglobin H Disease

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 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.

A case report of primary osteoporosis in a 7 year-old patient, with 3 genetic variants of increased risk: Management and treatment

Bone ◽  
2012 ◽  
Vol 50 ◽  
pp. S178-S179
Author(s):  
D. Tsiamasfirou⁎ ◽  
I. Christogiannis ◽  
N. Dris ◽  
T. Koromila ◽  
P. Kollia ◽  
...  
Keyword(s):  
Risk Management ◽  
Case Report ◽  
Genetic Variants ◽  
Primary Osteoporosis ◽  
Increased Risk

scholarly journals Pulmonary arterial hypertension-associated genetic variants in combined post-capillary and pre-capillary pulmonary hypertension: a case report

2021 ◽  
Vol 11 (1) ◽  
pp. 204589402199657
Author(s):  
Chomette L ◽  
Caravita S ◽  
Dewachter C ◽  
Abramowicz M ◽  
Vachiery JL ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Heart Disease ◽  
Case Report ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Genetic Variants ◽  
Cardiac Transplantation ◽  
Predisposing Factors ◽  
Left Heart ◽  
Pulmonary Arterial

Predisposing factors for the development of a pre-capillary component in pulmonary hypertension associated with left heart disease remain elusive. We report the case of a patient with persistent combined post-capillary and pre-capillary pulmonary hypertension after cardiac transplantation, in whom a rare BMPR2 variant was found.

scholarly journals Hemoglobin Willamette (b51 Pro → Arg): case report and literature review

2017 ◽  
Vol 9 (1) ◽  
Author(s):  
Orivaldo Alves Barbosa ◽  
Matheus Martins De Sousa Dias ◽  
Saymon Medeiros Távora ◽  
Gentil Claudino De Galiza Neto ◽  
Jacqueline Holanda De Souza ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Rare Disease ◽  
Genetic Variants ◽  
Tertiary Hospital ◽  
Health Sciences ◽  
Accurate Diagnosis ◽  
Potential Interactions

We report a case of hemoglobin (Hb) Willamette (β51 Pro → Arg) in the Hematology Department of a tertiary hospital in Fortaleza, Northeast of Brazil. A literature review of the cases described in health sciences databases using as a descriptor Hb Willamette was performed, revealing 12 reported cases, of which only one presented with anemia. Herein, we describe a case of a female 29 years old, with hemoglobinopathy Willamette presenting clinically with anemia, having the lowest hemoglobin rate of the published cases. The relatives of the patient were evaluated andthe patient’s mother corresponded to the first description of the association between Hb Willamette and HbC. Among the hemoglobinopathies, hemoglobin Willamette is an extremely rare disease; therefore it is important to analyze its clinical and laboratory manifestations for accurate diagnosis and assessment of potential interactions with other genetic variants.

Misophonia: An Evidence-Based Case Report

2020 ◽  
Vol 29 (4) ◽  
pp. 685-690
Author(s):  
C. S. Vanaja ◽  
Miriam Soni Abigail
Keyword(s):  
Quality Of Life ◽  
Case Report ◽  
Case History ◽  
Pure Tone ◽  
Physiological Responses ◽  
Evidence Based ◽  
Management Option ◽  
Pure Tone Audiogram

Purpose Misophonia is a sound tolerance disorder condition in certain sounds that trigger intense emotional or physiological responses. While some persons may experience misophonia, a few patients suffer from misophonia. However, there is a dearth of literature on audiological assessment and management of persons with misophonia. The purpose of this report is to discuss the assessment of misophonia and highlight the management option that helped a patient with misophonia. Method A case study of a 26-year-old woman with the complaint of decreased tolerance to specific sounds affecting quality of life is reported. Audiological assessment differentiated misophonia from hyperacusis. Management included retraining counseling as well as desensitization and habituation therapy based on the principles described by P. J. Jastreboff and Jastreboff (2014). A misophonia questionnaire was administered at regular intervals to monitor the effectiveness of therapy. Results A detailed case history and audiological evaluations including pure-tone audiogram and Johnson Hyperacusis Index revealed the presence of misophonia. The patient benefitted from intervention, and the scores of the misophonia questionnaire indicated a decrease in the severity of the problem. Conclusions It is important to differentially diagnose misophonia and hyperacusis in persons with sound tolerance disorders. Retraining counseling as well as desensitization and habituation therapy can help patients who suffer from misophonia.

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