Variants in miRNA Regulating Cardiac Growth Are Not a Common Cause of Hypertrophic Cardiomyopathy

Cardiology ◽  
2015 ◽  
Vol 130 (3) ◽  
pp. 137-142 ◽  
Author(s):  
Karol Curila ◽  
Lucie Benesova ◽  
Pavol Tomasov ◽  
Barbora Belsanova ◽  
Petr Widimsky ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Pcr Amplification ◽  
Mirna Sequence ◽  
Control Group ◽  
Sequence Variants ◽  
Healthy Controls ◽  
Sarcomeric Proteins ◽  
Dna Encoding ◽  
Cardiac Growth ◽  
Common Cause

Objectives: A substantial proportion of patients with hypertrophic cardiomyopathy (HCM) do not have causative mutations in the genes for heart sarcomere. The purpose of this study was to evaluate the association between microRNA (miRNA) sequence variants and HCM. Methods: We performed genetic testing on 56 HCM patients who had previously been found to be negative for mutations in the 4 major genes for sarcomeric proteins. The coding and adjacent regions (120-220 nt) of selected miRNAs were analyzed for the presence of sequence variants. The testing was based on PCR amplification of DNA-encoding miRNAs and subsequent denaturing capillary electrophoresis. Results: A total of 3 different variants were detected in the 11 selected miRNAs. These included polymorphisms rs45489294 in miRNA 208b, rs13136737 in miRNA 367 and rs9989532 in miRNA 1-2. In the patient group, the most frequent polymorphism was in miRNA 208b (10 times) followed by miRNA 367 (7 times). Both polymorphisms were found to occur with similar frequencies in the group of healthy controls. The remaining detected variant was not present in the control group, but was not connected with the HCM phenotype in the children of the probands. Conclusion: Sequence variants in miRNAs of patients with HCM are not frequent and the contribution of these variants to the development of this disease was not demonstrated.

A Common Thrombomodulin Amino Acid Dimorphism Is Associated with Myocardial Infarction

1997 ◽  
Vol 77 (02) ◽  
pp. 248-251 ◽  
Author(s):  
Lena Norlund ◽  
Johan Holm ◽  
Bengt Zöller ◽  
Ann-Kristin Öhlin
Keyword(s):  
Myocardial Infarction ◽  
Amino Acid ◽  
Plasma Concentration ◽  
Acute Coronary Syndromes ◽  
Protein C ◽  
Integral Membrane Protein ◽  
Control Group ◽  
Healthy Controls ◽  
Coronary Syndromes ◽  
Premature Myocardial Infarction

SummaryEndothelial dysfunction and haemostatic imbalance are believed to be important aetiological factors in the development of acute coronary syndromes. Thrombomodulin (TM) is an integral membrane protein crucial for normal endothelial function and activation of the protein C anticoagulant pathway. We have investigated the importance of a common C/T dimorphism in the TM gene (nucleotide 1418) for development of premature myocardial infarction (MI). The C/T dimorphism predicts an Ala455 to Val replacement in the sixth EGF-like domain of TM. The dimorphism was investigated in 97 MI survivors and 159 healthy controls. The C allele was significantly more frequent among patients than controls (p = 0.035). The allele frequency for the C allele was 0.82 in the patients and 0.72 in the control group. The plasma concentration of TM was investigated among healthy controls but was not related to the C/T dimorphism. In conclusion, the association of the C allele with premature MI, suggests that the TM gene and the C/T dimorphism may be aetiological factors involved in the pathogenesis of MI. Possibly, the Ala455 to Val replacement may affect the function of the TM molecule and the activation of the protein C anticoagulant pathway.

scholarly journals Dopamine adjusts the circadian gene expression of Per2 and Per3 in human dermal fibroblasts from ADHD patients

2021 ◽  
Author(s):  
Frank Faltraco ◽  
Denise Palm ◽  
Adriana Uzoni ◽  
Lena Borchert ◽  
Frederick Simon ◽  
...  
Keyword(s):  
Gene Expression ◽  
Dermal Fibroblast ◽  
Sleep Onset ◽  
Dermal Fibroblasts ◽  
Control Group ◽  
Adhd Group ◽  
Healthy Controls ◽  
Circadian Gene ◽  
Significant Difference ◽  
Circadian Preference

AbstractA link between dopamine levels, circadian gene expression, and attention deficit hyperactivity disorder (ADHD) has already been demonstrated. The aim of this study was to investigate the extent of these relationships by measuring circadian gene expression in primary human-derived dermal fibroblast cultures (HDF) after dopamine exposure. We analyzed circadian preference, behavioral circadian and sleep parameters as well as the circadian gene expression in a cohort of healthy controls and participants with ADHD. Circadian preference was evaluated with German Morningness-Eveningness-Questionnaire (D-MEQ) and rhythms of sleep/wake behavior were assessed via actigraphy. After ex vivo exposure to different dopamine concentrations in human dermal fibroblast (HDF) cultures, the rhythmicity of circadian gene expression (Clock, Bmal1, Per1-3, Cry1) was analyzed via qRT-PCR. We found no statistical significant effect in the actigraphy of both groups (healthy controls, ADHD group) for mid-sleep on weekend days, mid-sleep on weekdays, social jetlag, wake after sleep onset, and total number of wake bouts. D-MEQ scores indicated that healthy controls had no evening preference, whereas subjects with ADHD displayed both definitive and moderate evening preferences. Dopamine has no effect on Per3 expression in healthy controls, but produces a significant difference in the ADHD group at ZT24 and ZT28. In the ADHD group, incubation with dopamine, either 1 µM or 10 µM, resulted in an adjustment of Per3 expression to control levels. A similar effect also was found in the expression of Per2. Statistical significant differences in the expression of Per2 (ZT4) in the control group compared to the ADHD group were found, following incubation with dopamine. The present study illustrates that dopamine impacts on circadian function. The results lead to the suggestion that dopamine may improve the sleep quality as well as ADHD symptoms by adjustment of the circadian gene expression, especially for Per2 and Per3.

scholarly journals AB1034 DEPRESSION AND ANXIETY IN FAMILIAL MEDITERRANEAN FEVER

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1808.2-1809
Author(s):  
D. Karatas ◽  
Z. Öztürk ◽  
D. Cekic ◽  
Z. Yuertsever ◽  
Ü. Erkorkmaz ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Severe Depression ◽  
Anxiety And Depression ◽  
Control Group ◽  
Healthy Controls ◽  
Depression And Anxiety ◽  
Mild Depression ◽  
Moderate Depression ◽  
Mediterranean Fever

Background:Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent attacks of fever, peritonitis, pleuritis, arthritis, and skin eruption (1). It is shown by studies that chronic diseases like diabetes mellitus, chronic heart disease, hypertension which other than inflammatory – rheumatologic disease increase depression and anxiety (2). There are a few studies evaluating depression and anxiety in FMF patients, and these results are conflicting (3,4).Objectives:To assess the frequency of depression and anxiety in patients with Familial Mediterranean Fever (FMF)Methods:In this study, 77 FMF patients aged 18 and over who were followed up in Sakarya University Education and Research Hospital, Department of Rheumatology, and 78 healthy volunteers aged 18 and over as thecontrol group. Beck depression scale and Beck anxiety scale were used to depression and anxiety, respectively. Beck’sdepression scale was evaluated as 9 and below normal, 10-16 mild depression, 17-29 moderate depression, 30-63 severe depression. Beck anxiety scale was evaluated as 0-8 normal, 8-15 mild anxiety, 16-25 moderate anxiety, 26 and above severe anxiety.FMF disease severity was determined by Pras scoring.Results:The study group, comprised 77 diagnosed with FMF with a meanage of 37.18 and a control group comprised of 78 healthy controls (C) with a meanage of 35.32 (p=0,058). İn studygroup (P) %63.6, control group (C) %53.8 as female. %36.4 of thestudy group(C), %46.2 of the control group are male. (p=0,216). The prevalence of depression was significantly higher in FMF patients compared to the control group (in order P;C: normal %24,7; %47,4, mild depression: %40.3; %26.9, moderate depression %26; %19.2, severe depression %11.7; %6.4 p<0.015). Similarly in depression results; the prevalence of anxiety was significantly higher in FMF patients compared to the control group (in order P;C normal %23,4; %57.7, mild anxiety %26; %20.5, moderate anxiety %26; %15.4, severe anxiety %24.4; %6.4 p<0,001). Depression status was not correlated with FMF disease severity (p=0.645). A correlation was found between FMF severity and anxiety which it is which was found statistically significant (p=0.005).There was no relationship between erythrocyte sedimentation rate and C-reactive protein with depression and anxiety.Conclusion:Both anxiety and depression frequency are increased in FMF patients compared to healthy controls.References:[1]Livneh A, Langevitz P, Zemer D et al. (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40 (10), 1879–85.[2]Alonso J, Ferrer M, Gandek B, Ware JE Jr, Aaronson NK, Mosconi P, Rasmussen NK, Bullinger M, Fukuhara S, Kaasa S, Leplège A, IQOLA Project Group (2004) Health-related quality of life associated with chronic conditions in eight countries: results from the International Quality of Life Assessment (IQOLA) Project. Qual Life Res 13:283–298[3]Makay B, Emiroglu N, Unsal E (2010) Depression andanxiety in children and adolescents with familial Mediterranean fever. Clin Rheumatol 29, 375–9.[4]Giese A, Ornek A, Kilic L, Kurucay M, Sendur S. N., Lainka E, Henning B. F. Anxiety and depression in adult patients with familialMediterranean fever: a study comparing patients living in Germany and Turkey. International Journal of Rheumatic Diseases 2017; 20: 2093–2100Disclosure of Interests:None declared

scholarly journals Perceived stress in the time of COVID-19: the association with brooding and COVID-related rumination in adults with and without migraine

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Lilla Nóra Kovács ◽  
Dániel Baksa ◽  
Dóra Dobos ◽  
Nóra Eszlári ◽  
Kinga Gecse ◽  
...  
Keyword(s):  
Perceived Stress ◽  
Multiple Linear Regression Model ◽  
Self Report ◽  
Control Group ◽  
Similar Degree ◽  
Healthy Controls ◽  
Group Status ◽  
Depressive Rumination ◽  
The Times ◽  
Brooding And Reflection

Abstract Background The main goal of this research was to explore whether migraineurs had a higher level of perceived stress than healthy controls during the times of the coronavirus and related restrictive measures, and to examine the relationship between different subtypes of rumination and perceived stress in these groups. We measured two facets of depressive rumination, brooding and reflection, along with rumination about the current COVID-19 situation to see whether these different subtypes of rumination explained perceived stress among migraineurs and healthy controls. Methods Healthy adults (n = 64) and migraine patients (n = 73) filled out self-report questionnaires online. A multiple linear regression model was used to test whether depressive rumination (i.e. brooding and reflection) and COVID-related rumination explained perceived stress among adults with and without migraine during the times of COVID-19, after controlling for gender, age, migraine/control group status and migraine disability. Results Although we did not find any difference in the level of perceived stress among migraineurs and the control group, perceived stress was more strongly associated with brooding as well as COVID-related rumination among migraineurs than healthy controls. COVID-related rumination and brooding (but not reflection) explained the level of perceived stress after controlling for gender, age, migraine/control group status and migraine disability. Conclusions The similar degree of perceived stress among migraineurs and the control group may imply that there is great variation in the personal experience of people regarding the pandemic, that may be determined by numerous other factors. Our results demonstrate that ruminating about the pandemic and related difficulties, as well as brooding (but not reflection) appear to be associated with higher level of perceived stress during the times of the coronavirus. This association was slightly stronger among migraineurs, hinting at the increased vulnerability of this patient group in stressful situations like the COVID-19 pandemic. Our results also suggest that ruminating about the pandemic and its consequences is weakly associated with trait-level depressive rumination, thus may be more contingent on specific factors.

scholarly journals Effect of Achilles Tendon Rupture on Player Performance and Longevity in Women’s National Basketball Association Players

2021 ◽  
Vol 9 (3) ◽  
pp. 232596712198998
Author(s):  
Joseph S. Tramer ◽  
Lafi S. Khalil ◽  
Patrick Buckley ◽  
Alexander Ziedas ◽  
Patricia A. Kolowich ◽  
...  
Keyword(s):  
Achilles Tendon ◽  
Tendon Rupture ◽  
Achilles Tendon Rupture ◽  
National Basketball Association ◽  
Return To Play ◽  
Control Group ◽  
Healthy Controls ◽  
Career Longevity ◽  
Women's National Basketball Association ◽  
Player Performance

Background:Women’s National Basketball Association (WNBA) players have a greater incidence of lower extremity injury compared with male players, yet no data exist on functional outcomes after Achilles tendon rupture (ATR).Purpose:To evaluate the effect of Achilles tendon repair on game utilization, player performance, and career longevity in WNBA athletes.Study Design:Cohort study; Level of evidence, 3.Methods:WNBA players from 1997 to 2019 with a history of ATR (n = 12) were matched 1:2 to a healthy control group. Player characteristics, game utilization, and in-game performance data were collected for each athlete, from which the player efficiency rating (PER) was calculated. Statistical analysis was performed comparing postinjury data to preinjury baseline as well as cumulative career data. Changes at each time point relative to the preinjury baseline were also compared between groups.Results:Of the 12 players with ATR, 10 (83.3%) returned to play at the WNBA level at a mean (±SD) of 12.5 ± 3.3 months. Four players participated in only 1 WNBA season after injury. There were no differences in characteristics between the 10 players who returned to play after injury and the control group. After return to play, the WNBA players demonstrated a significant decrease in game utilization compared with preinjury, playing in 6.0 ± 6.9 fewer games, starting in 12.7 ± 15.4 fewer games, and playing 10.2 ± 9.1 fewer minutes per game ( P < .05 for all). After the index date of injury, the players with Achilles repair played 2.1 ± 1.2 more years in the WNBA, while control players played 5.35 ± 3.2 years ( P < .01) Additionally, the players with Achilles repair had a significant decrease in PER in the year after injury compared with preinjury (7.1 ± 5.3 vs 11.0 ± 4.4; P = .02). The reduction in game utilization and decrease in PER in these players was maintained when compared with the matched controls ( P < .05 for both).Conclusion:The majority of WNBA players who sustained ATR were able to return to sport after their injury; however, their career longevity was shorter than that of healthy controls. There was a significant decrease in game utilization and performance in the year after return to play compared with healthy controls.

scholarly journals Temporomandibular disorders in patients with early rheumatoid arthritis and at-risk individuals in the Dutch population: a cross-sectional study

RMD Open ◽  
2021 ◽  
Vol 7 (1) ◽  
pp. e001485
Author(s):  
Johanna M Kroese ◽  
Catherine M C Volgenant ◽  
Wim Crielaard ◽  
Bruno Loos ◽  
Dirkjan van Schaardenburg ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
At Risk ◽  
Early Rheumatoid Arthritis ◽  
Temporomandibular Disorders ◽  
Self Report ◽  
Joint Disease ◽  
Control Group ◽  
Healthy Controls ◽  
Cross Sectional ◽  
Pain Diagnosis

ObjectiveTo evaluate the prevalence of temporomandibular disorders (TMD) in patients with early rheumatoid arthritis (ERA) and individuals at-risk of RA.Methods150 participants were recruited in three groups (50 per group): (1) patients with ERA (2010 EULAR criteria) (2) at-risk individuals and (3) healthy controls. All participants were tested for seropositivity of rheumatoid factor and anticitrullinated protein antibodies. A possible TMD diagnosis was determined according to the standardised and validated diagnostic criteria for TMD (DC/TMD) in five categories: myalgia, arthralgia, articular disc displacement, degenerative joint disease and headache attributed to TMD. Results were tested for the prevalence of TMD (all categories combined) and TMD pain (myalgia and/or arthralgia). To investigate a possible role for bruxism, a probable sleep and/or awake bruxism diagnosis was determined based on self-report and several clinical features.ResultsThe prevalence of any TMD diagnosis did not differ between the three groups. However, at-risk individuals more often had a TMD-pain diagnosis than healthy controls (p=0.046). No such difference was found between the ERA group and the control group. However, within the ERA group, seronegative patients had a TMD-pain diagnosis more often than seropositive patients (4/12 (33%) vs 3/38 (8%), p=0.048). Participants with a TMD-pain diagnosis were more often diagnosed with probable sleep bruxism than those without a TMD-pain diagnosis.ConclusionThe prevalence of TMD pain is increased in individuals at-risk of RA and seronegative ERA patients, and is associated with bruxism signs and symptoms. These results suggest that health professionals should be alert to TMD pain in these groups.

scholarly journals Association of Tumor Necrosis Factor-α -308G>A, -238G>A and -376G>A polymorphisms with recurrent pregnancy loss risk in the Greek population

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Sofoklis Stavros ◽  
Despoina Mavrogianni ◽  
Myrto Papamentzelopoulou ◽  
Evaggelos Basamakis ◽  
Hend Khudeir ◽  
...  
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Pcr Amplification ◽  
Greek Population ◽  
Control Group ◽  
Increased Risk ◽  
Tnf Α ◽  
Caucasian Women ◽  
Factor Α ◽  
And Control

Abstract Background Promoter region SNPs in TNF-α have been studied in association with Recurrent Pregnancy Loss (RPL) occurrence in various populations. Among them, −238G > A, −308G > A and − 376G > A have been frequently investigated for their potential role in recurrent abortions. The aim of the present study is to evaluate the correlation among TNF-α 238, TNF-α 308 and TNF-α 376 polymorphisms and recurrent pregnancy loss risk in Greek women. Methods This study included 94 Caucasian women with at least two miscarriages of unexplained aetiology, before the 20th week of gestation. The control group consisted of 89 Caucasian women of proven fertility, with no history of pregnancy loss. DNA samples were subjected to PCR amplification using specific primers. Sanger sequencing was applied to investigate the presence of TNF-α 238, TNF-α 308, TNF-α 376 polymorphisms in all samples. Results The TNF-α 238 and TNF-α 308 variants were both detected in RPL and control groups (7.45% vs 4.49 and 45.16% vs 36.73%, respectively), but with no statistically significant association (p-value 0.396 and 0.374, respectively). The TNF-α 376 variant was not detected at all in both control and RPL groups. When TNF-α 238 and TNF-α 308 genotypes were combined no association with RPL was detected (p-value = 0.694). In subgroup analysis by parity, RPL patients carrying the A allele reported less previous births. Conclusions This is the first study demonstrating TNF-α 238 and TNF-α 308 gene expression and the absence of TNF-α 376 variant in Greek women with RPL. However, no association emerged between each polymorphism studied and the occurrence of recurrent pregnancy loss. Accordingly, TNF-α -308G > A, −238G > A and -376G > A variants are not considered genetic markers for identifying women at increased risk of recurrent pregnancy loss in the Greek population.

scholarly journals Association between apolipoprotein gene polymorphisms and hyperlipidemia: a meta-analysis

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Xiao-Ning Zhao ◽  
Quan Sun ◽  
You-Qin Cao ◽  
Xiao Ran ◽  
Yu Cao
Keyword(s):  
Risk Factor ◽  
Cerebrovascular Disease ◽  
Gene Polymorphisms ◽  
Meta Analysis ◽  
Control Group ◽  
Case Group ◽  
Healthy Controls ◽  
Ε4 Allele ◽  
Different Populations ◽  
The Impact

Abstract Background Hyperlipidemia plays an important role in the etiology of cardio-cerebrovascular disease. Over recent years, a number of studies have explored the impact of apolipoprotein genetic polymorphisms in hyperlipidemia, but considerable differences and uncertainty have been found in their association with different populations from different regions. Results A total of 59 articles were included, containing in total 13,843 hyperlipidemia patients in the case group and 15,398 healthy controls in the control group. Meta-analysis of the data indicated that APOA5–1131 T > C, APOA1 -75 bp, APOB XbaI, and APOE gene polymorphisms were significantly associated with hyperlipidemia, with OR values of 1.996, 1.228, 1.444, and 1.710, respectively. All P-values were less than 0.05. Conclusions Meta-analysis of the data indicated that the C allele of APOA5 1131 T > C, the A allele at APOA1-75 bp, the APOB XbaI T allele, and the ε2 and ε4 allele of APOE were each a risk factor for susceptibility for hyperlipidemia.

Association between circulating leptin levels and multiple sclerosis: a systematic review and meta-analysis

2018 ◽  
Vol 94 (1111) ◽  
pp. 278-283 ◽  
Author(s):  
Xue-Feng Xie ◽  
Xiao-Hui Huang ◽  
Ai-Zong Shen ◽  
Jun Li ◽  
Ye-Huan Sun
Keyword(s):  
Multiple Sclerosis ◽  
Meta Analysis ◽  
Random Effect ◽  
Random Effect Model ◽  
Control Group ◽  
Sample Type ◽  
Healthy Controls ◽  
Eligibility Criteria ◽  
Effect Model ◽  
Healthy Control

AimLeptin, synthesised by adipocytes, has been identified as a hormone that can influence inflammatory activity. Several studies have investigated leptin levels in patients with multiple sclerosis (MS), but the results are not consistent. This study aims to derive a more precise evaluation on the relationship between circulating leptin levels and MS.DesignA comprehensive literature searched up to July 2017 was conducted to evaluate the association of circulating leptin levels and MS. The random-effect model was applied to calculate pooled standardised mean difference (SMD) and its 95% CI.Main outcome measuresCirculating leptin levels of patients with MS and healthy controls.ResultsOf 2155 studies identified, 33 met eligibility criteria and 9 studies with 645 patients with MS and 586 controls were finally included in the meta-analysis. Meta-analysis revealed that, compared with the healthy control group, the MS group had significantly higher plasma/serum leptin levels, with the SMD of 0.70% and 95% CI (0.24 to 1.15). Subgroup analyses suggested that the leptin levels of patients with MS were associated with region, age, study sample size, measurement type, gender and blood sample type.ConclusionOverall, our study suggests that patients with MS have a significantly higher leptin level than in healthy controls. Further mechanism studies and longitudinal large cohort studies are still needed to further reveal the role of leptin in the pathogenesis of MS.

scholarly journals Coping Strategies, Anxiety and Depression in OCD and Schizophrenia: Changes during COVID-19

2021 ◽  
Vol 11 (7) ◽  
pp. 926
Author(s):  
Ángel Rosa-Alcázar ◽  
José Luis Parada-Navas ◽  
María Dolores García-Hernández ◽  
Sergio Martínez-Murillo ◽  
Pablo J. Olivares-Olivares ◽  
...  
Keyword(s):  
Coping Strategies ◽  
Experiential Avoidance ◽  
Online Survey ◽  
Anxiety And Depression ◽  
Control Group ◽  
Healthy Controls ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Survey Results ◽  
And Coping

Background: The main aim was to examine changes in coping strategies, anxiety and depression in obsessive–compulsive and schizophrenia patients during COVID-19, in addition to controlling the influence of intolerance to uncertainty and experiential avoidance. Method: The first time, the study comprised (15–30 April 2020) 293 patients, 113 of whom were diagnosed with obsessive–compulsive disorder, 61 with schizophrenia and 119 healthy controls, aged 13–77 years (M = 37.89, SD = 12.65). The second time (15–30 November), the study comprised 195 participants (85 obsessive–compulsive patients, 42 schizophrenic patiens and 77 healthy controls participants). The evaluation was carried out through an online survey. Results: The clinical groups worsened over time in cognitive coping, anxiety and depression, while the control group only worsened in depression. Intergroup differences in anxiety, depression and coping strategies were maintained, highlighting the use of some maladaptive strategies (avoidance, spiritual) in clinical groups. Experiential avoidance and tolerance for uncertainty mainly affected coping. Conclusions: The duration of COVID-19 not only produced changes in anxiety and depression in clinical groups but also in coping strategies to face this pandemic and its consequences.

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