scholarly journals The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report

2020 ◽  
Vol 11 ◽  
Author(s):  
Alessandro Cattoni ◽  
Alice Spano ◽  
Anna Tulone ◽  
Annalisa Boneschi ◽  
Nicoletta Masera ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Variants ◽  
Complex Pattern ◽  
Synergic Effect ◽  
Pathogenic Factor ◽  
Ovarian Dysgenesis

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.

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

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 Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report

2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
N. Bousfiha ◽  
S. Errarhay ◽  
H. Saadi ◽  
K. Ouldim ◽  
C. Bouchikhi ◽  
...  
Keyword(s):  
Case Report ◽  
Gonadal Dysgenesis ◽  
Primary Amenorrhea ◽  
Chromosomal Anomalies ◽  
Fish Analysis ◽  
Substitution Therapy ◽  
Hormone Substitution ◽  
Pelvic Mri ◽  
Ovarian Dysgenesis ◽  
Internal Genitalia

Introduction. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental, independent of chromosomal anomalies.Case Report. We report the case of a 19-year-old woman who presented primary amenorrhea and impuberism. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46XX. No chromosome Y was detected at the FISH analysis. Internal genitalia could not be identified on the pelvic ultrasound and pelvic MRI. Laparoscopy was undertaken and revealed concomitant ovarian dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. There were no other morphological malformations.Conclusion. The pathogenesis of the association of gonadal dysgenesis and Mayer Rokitansky kuster hauser syndrome is still mysterious. The treatment is based essentially on hormone substitution therapy. The fertility prognosis is unfortunately compromised.

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.

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