scholarly journals Follow-up of genetic linkage findings on chromosome 16p13: evidence of association of N-methyl-D aspartate glutamate receptor 2A gene polymorphism with ADHD

2004 ◽  
Vol 9 (2) ◽  
pp. 169-173 ◽  
Author(s):  
D Turic ◽  
K Langley ◽  
S Mills ◽  
M Stephens ◽  
D Lawson ◽  
...  
2016 ◽  
Vol 10 (1) ◽  
pp. 117-121
Author(s):  
Zulkuf Karahan ◽  
Murat Ugurlu ◽  
Berzal Ucaman ◽  
Ali Veysel Ulug ◽  
Ilyas Kaya ◽  
...  

Background: Angiotensin converting enzyme (ACE) gene polymorphism is associated with high renin-angiotensin system causing myocardial fibrosis and ventricular repolarization abnormality. Based on these findings, this study was designed to determine the association between ACE gene insertion/deletion (I/D) polymorphism and QT dispersion after acute myocardial infarction (MI). Objective and Methods: The study included 108 patients with acute MI. Blood samples were obtained from all the patients for genomic DNA analysis. ECGs were recorded at baseline and at the end of a 6-month follow up. The OT dispersion was manually calculated. Results: The mean age of the patients was 57.5 ±9.9 years (ranging from 36 to 70). The patients with DD genotype showed longer QT dispersion than patients with II or DI genotype at the baseline, while at the end of the six-month follow up the patients with DI genotype showed longer QT dispersion than patients with DD or II genotypes. However, the magnitude of the QT dispersion prolongation was higher in patients carrying the ACE D allele than patients who were not carrying it, at baseline and at the end of six-month follow up (52.5 ±2.6 msn vs. 47.5±2.1 msn at baseline, 57±3.2 msn vs. 53±2.6 msn in months, P: 0.428 and P: 0.613, respectively). Conclusion: Carriers of the D allele of ACE gene I/D polymorphism may be associated with QT dispersion prolongation in patients with MI.An interaction of QT dispersion and ACE gene polymorphism may be associated with an elevation of serum type I-C terminal pro-collagen concentration, possibly leading to myocardial fibrosis, and increased action potential duration.


2019 ◽  
Vol 12 ◽  
pp. 175628641984741 ◽  
Author(s):  
Monika Christ ◽  
Torsten Müller ◽  
Corinna Bien ◽  
Thomas Hagen ◽  
Markus Naumann ◽  
...  

Autoimmune encephalitis associated with antibodies against the metabotropic glutamate receptor type 1 is a rare autoimmune disease with only 18 cases being described in the literature so far. Most patients present with subacute cerebellar ataxia. In more than one third of cases a paraneoplastic aetiology has been suspected. Here we report a case of a 45-year-old man without known malignancy, who presented with progressive dysarthria and subsequently developed subacute cerebellar ataxia. Immunotherapy with glucocorticoids, i.v. immunoglobulins and rituximab improved clinical symptoms and resulted in a stable disease course up to the present. The article describes the clinical course of the patient with a follow-up-period of approximately 24 months and reviews the cases reported in the literature so far.


2012 ◽  
Vol 159B (5) ◽  
pp. 491-500 ◽  
Author(s):  
Giovanni Castellini ◽  
Valdo Ricca ◽  
Lorenzo Lelli ◽  
Silvia Bagnoli ◽  
Ersilia Lucenteforte ◽  
...  

Cardiology ◽  
2018 ◽  
Vol 140 (3) ◽  
pp. 187-193
Author(s):  
Jinggang Xia ◽  
Shaodong Hu ◽  
Chunlin Yin ◽  
Dong Xu

Objectives: This study aimed to investigate the relation between ApoE gene polymorphisms and major adverse cardiovascular events (MACE) in patients with acute coronary syndrome (ACS) during a 6-month follow-up. Methods: From October 2016 to July 2017, 211 patients were admitted to a cardiology clinic with a diagnosis of ACS. Blood samples were obtained from all patients on the first day. The primary end point was a 6-month incidence of MACE. ApoE gene polymorphism was genotyped by real-time PCR using TaqMan® SNP Genotyping Assay. Results: The patients with the E4 allele were associated with higher low-density lipoprotein (LDL) cholesterol and total cholesterol (TC) levels compared with the patients without the E4 allele (p = 0001 and p = 0.001). The patients with the E4 allele were associated with a higher rate of MACE compared with the patients without the E4 allele (ApoE4 allele(+) 23.1% vs. ApoE4 allele(−) 9.3%; p = 0.03). Multivariable analysis suggested that E4 allele carriers showed an 85% risk increment of 6-month MACE (odds ratio 2.48, 95% confidence interval 2.37–5.95; p = 0.01). Conclusions: The trial shows that E4 allele carriers were correlated with not only higher LDL cholesterol and TC levels, but also with a higher incidence of MACE during a 6-month follow-up.


2011 ◽  
Vol 77 (4) ◽  
pp. 283-290 ◽  
Author(s):  
M. Kocierz ◽  
U. Siekiera ◽  
A. Kolonko ◽  
H. Karkoszka ◽  
J. Chudek ◽  
...  

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