Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants

Abstract Aims The Brugada syndrome (BrS) is an inherited disease associated with an increased risk of sudden cardiac death. Often, the genetic cause remains undetected. Perhaps due at least in part because the NaV1.8 protein is expressed more in both the central and peripheral nervous systems than in the heart, the SCN10A gene is not included in diagnostic arrhythmia/sudden death panels in the vast majority of cardiogenetics centres. Methods and results Clinical characteristics were assessed in patients harboring either SCN5A or novel SCN10A variants. Genetic testing was performed using Next Generation Sequencing on genomic DNA. Clinical characteristics, including the arrhythmogenic substrate, in BrS patients harboring novel SCN10A variants and SCN5A variants are comparable. Clinical characteristics, including gender, age, personal history of cardiac arrest/syncope, spontaneous BrS electrocardiogram pattern, family history of sudden death, and arrhythmic substrate are not significantly different between probands harboring SCN10A or SCN5A variants. Conclusion Future studies are warranted to further characterize the role of these specific SCN10A variants.

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Pre-Eclamptic Pregnancies: An Opportunity to Identify Women at Risk for Future Cardiovascular Disease

Women s Health ◽

10.2217/17455057.4.2.133 ◽

2008 ◽

Vol 4 (2) ◽

pp. 133-135 ◽

Cited By ~ 25

Author(s):

Iasmina M Craici ◽

Steven J Wagner ◽

Suzanne R Hayman ◽

Vesna D Garovic

Keyword(s):

Systematic Review ◽

Cardiovascular Disease ◽

Risk Factor ◽

Meta Analysis ◽

Later Life ◽

Future Studies ◽

Increased Risk ◽

All Cause Mortality ◽

History Of

Evaluation of: Bellamy L, Casas JP, Hingorani AD, Williams DJ: Pre-eclampsia and risk of cardiovascular disease and cancer in later life: systematic review and meta-analysis. Br. Med. J. 335(7627), 974 (2007). Evidence has emerged over the years suggesting that women who develop hypertensive pregnancy disorders, most notably pre-eclampsia, are at an increased risk for cardiovascular disease later in life. In this study, a systematic review and meta-analysis were performed, assessing the future risks of cardiovascular disease, cancer and all-cause mortality in women with a history of pre-eclampsia and eclampsia. Women with a history of pre-eclampsia or eclampsia, compared with women without such a history, had an increased risk for cardiovascular disease, including a fourfold increased risk for hypertension, a twofold increased risk for ischemic heart disease, stroke and deep venous thrombosis, and a 1.5-times higher all-cause mortality. The study suggests that affected women may be eligible for preventive therapies at an earlier age, especially if future studies establish the role of pre-eclampsia as an independent cardiovascular risk factor.

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Patients with infective endocarditis and history of injection drug use in a Swedish referral hospital during 10 years

BMC Infectious Diseases ◽

10.1186/s12879-021-05914-1 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Anna Damlin ◽

Katarina Westling

Keyword(s):

Infective Endocarditis ◽

Drug Use ◽

Injection Drug Use ◽

Clinical Characteristics ◽

National Registry ◽

Injection Drug ◽

University Hospital ◽

Prosthetic Heart Valves ◽

Increased Risk ◽

History Of

Abstract Background Patients with injection drug use (IDU) have increased risk of developing infective endocarditis (IE). Previous studies have reported recurrent IE, increased duration of hospital stay, poor adherence and compliance as well as higher mortality and worse outcomes after surgery in the IDU-IE patient group. Further studies are needed to provide a basis for optimized care and prevention of readmissions in this population. This study aims to describe the clinical characteristics and outcomes among patients with IDU-IE. Methods Data of adults with IDU-IE and non-IDU-IE, treated between 2008 and 2017 at the Karolinska University Hospital in Stockholm were obtained from the Swedish National Registry of Infective Endocarditis. Clinical characteristics, microbiological results, treatment durations, results from echocardiography and in-hospital mortality were compared between the groups. Results Of the total 522 patients, 165 (32%) had IDU-IE. Patients with IDU-IE were younger than the patients with non-IDU-IE (mean age IDU-IE: 41.6 years, SD 11.9 years; non-IDU-IE: 64.3 years, SD 16.4 years; P < 0.01). No difference in distribution of gender was observed, 33% were females in both the IDU-IE and the non-IDU-IE group. History of previous IE (IDU-IE: n = 49, 30%; non-IDU-IE: n = 34, 10%; P < 0.01) and vascular phenomena (IDU-IE: n = 101, 61%; non-IDU-IE: n = 120, 34%; P < 0.01) were more common among patients with IDU-IE while prosthetic heart valves (IDU-IE: n = 12, 7%; non-IDU-IE: n = 83, 23%; P < 0.01) and known valvular disease (IDU-IE: n = 3, 2%; non-IDU-IE: n = 78, 22%; P < 0.01) were more common among patients with non-IDU-IE. Aetiology of Staphylococcus aureus (IDU-IE: n = 123, 75%; non-IDU-IE: n = 118, 33%; P < 0.01) as well as tricuspid (IDU-IE: n = 91, 55%; non-IDU-IE: n = 23, 6%; P < 0.01) or pulmonary valve vegetations (IDU-IE: n = 7, 4%; non-IDU-IE: n = 2, 1%; P < 0.01) were more common in the IDU-IE group. The overall incidence of IDU-IE decreased during the study period, while the incidence of definite IE increased (P < 0.01). Conclusions This study presents that patients with IDU-IE were younger, less frequently treated with surgery and had higher prevalence of vascular phenomena and history of previous IE, aspects that are important for improved management of this population.

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Concomitant autoimmunity may be a predictor of more severe stages of endometriosis

Scientific Reports ◽

10.1038/s41598-021-94877-z ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Vanni Valeria Stella ◽

Villanacci Roberta ◽

Salmeri Noemi ◽

Papaleo Enrico ◽

Delprato Diana ◽

...

Keyword(s):

Autoimmune Disease ◽

Adaptive Immune System ◽

Stage Iv ◽

Multivariate Logistic Regression Model ◽

Medical Patients ◽

Laparoscopic Procedures ◽

Logistic Analysis ◽

Increased Risk ◽

History Of

AbstractPathogenesis of endometriosis is still unclear and a role of both innate and adaptive immune system has been postulated. Some recent findings have revealed an increased risk to have concomitant autoimmune disease in women with endometriosis, but no study so far has investigated whether this association could affect endometriosis severity and stage. We retrospectively reviewed medical patients’ notes of women with a confirmed diagnosis of endometriosis who referred to our endometriosis outpatient clinic between January 2015 and December 2019. Cases (endometriosis and an autoimmune disease) were matched in a 1:3 ratio by age and study period with controls (endometriosis without history of autoimmunity). At univariate logistic analysis, concomitant autoimmunity (OR 2.63, 95% CI 1.64–4.21, p < 0.001) and the number of laparoscopic procedures performed (OR 2.81, 95% CI 1.45–5.43, p = 0.002) emerged as factors significantly associated with the likelihood of stage IV endometriosis. In the multivariate logistic regression model, concomitant autoimmunity remained a significant predictor of stage IV endometriosis (OR 2.54, 95% CI 1.57–4.10, p = 0.004), whereas the association between the number of laparoscopic procedures performed and stage IV endometriosis was found to be of borderline-significance (OR 2.70, 95% 1.37–5.30, p = 0.050). Our findings suggest that endometriosis is more severe in patients who are also affected by autoimmune disturbances after controlling for relevant confounders.

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CHEK2∗1100delC Mutation and Risk of Prostate Cancer

Prostate Cancer ◽

10.1155/2014/294575 ◽

2014 ◽

Vol 2014 ◽

pp. 1-9 ◽

Cited By ~ 24

Author(s):

Victoria Hale ◽

Maren Weischer ◽

Jong Y. Park

Keyword(s):

Prostate Cancer ◽

Current Knowledge ◽

Prostate Cancer Screening ◽

Critical Role ◽

Prostate Cancer Risk ◽

Conclusive Evidence ◽

Increased Risk ◽

History Of ◽

Cancer Studies

Although the causes of prostate cancer are largely unknown, previous studies support the role of genetic factors in the development of prostate cancer.CHEK2plays a critical role in DNA replication by responding to double-stranded breaks. In this review, we provide an overview of the current knowledge of the role of a genetic variant, 1100delC, ofCHEK2on prostate cancer risk and discuss the implication for potential translation of this knowledge into clinical practice. Currently, twelve articles that discussedCHEK2∗1100delC and its association with prostate cancer were identified. Of the twelve prostate cancer studies, five studies had independent data to draw conclusive evidence from. The pooled results of OR and 95% CI were 1.98 (1.23–3.18) for unselected cases and 3.39 (1.78–6.47) for familial cases, indicating thatCHEK2∗1100delC mutation is associated with increased risk of prostate cancer. Screening for CHEK2∗1100delC should be considered in men with a familial history of prostate cancer.

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Sex Differences in Inmates: Anger, Sensitivity to Provocation and Family History of Imprisonment

International Journal of Offender Therapy and Comparative Criminology ◽

10.1177/0306624x211049189 ◽

2021 ◽

pp. 0306624X2110491

Author(s):

Marta Bodecka-Zych ◽

Anna Zajenkowska ◽

Mary Bower Russa

Keyword(s):

Family History ◽

Comparison Group ◽

Female Inmates ◽

Male And Female ◽

Female Prisoners ◽

Increased Risk ◽

Incarcerated Populations ◽

History Of ◽

Male Prisoners

Little research has explored the role of aggression, anger, and family history of incarceration as they relate to female offenders. The current study aimed to address this gap in the literature by investigating these possible risk factors for incarceration among both men and women. The survey involved 123 (61 female and 62 male) prisoners convicted for violent crimes and a comparison group of 118 (60 female and 58 male) adults from the community. We found that women (convicted and non-convicted) were more sensitive to provocation than men, while community adults showed higher levels of trait anger than prisoners. Detainees were more likely than community adults to have a relative in prison. Although male and female inmates were equally likely to have a relative in prison, they differed in their relation to the imprisoned relative. Male and female prisoners showed increased risk for incarceration of same sex, first degree relatives (father and brothers for men, and mothers for women). These results may contribute to improved understanding of incarcerated populations. As such, this represents a critical first step in creating recovery programs that are more gender appropriate.

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Investigating Association of rs5918 Human Platelets Antigen 1 and rs1800790 Fibrinogen β Chain as Critical Players with Recurrent Pregnancy Loss

Medical Sciences ◽

10.3390/medsci6040098 ◽

2018 ◽

Vol 6 (4) ◽

pp. 98 ◽

Cited By ~ 3

Author(s):

Fatemeh Karami ◽

Maliheh Askari ◽

Mohammad Modarressi

Keyword(s):

Pregnancy Loss ◽

Recurrent Pregnancy Loss ◽

Human Platelets ◽

P Value ◽

Increased Risk ◽

History Of ◽

Polymerase Chain ◽

Β Chain ◽

Larger Sample

Thrombophilia gene variants have been shown to be associated with higher risk of recurrent pregnancy loss (RPL). Due to the role of human platelets antigen 1 (HPA-1) and fibrinogen β chain (FGB) as critical players in the coagulation process, their most important variants including rs5918 T > C and rs1800790 G > A were selected to be studied in women affected by RPL. Three milliliters of peripheral blood were drawn from 110 women with history of at least two consecutive spontaneous abortion and 110 healthy women controls. rs5918 T > C and rs1800790 G > A of HPA-1 and FGB genes, respectively, were selected to be analyzed through polymerase chain reaction-restriction fragment length polymorphism (PCR_RFLP) following DNA isolation using QIAamp DNA Blood Mini Kit. Heterozygote genotype (TC) of HPA-1 gene rs5918 polymorphism was significantly associated with risk of RPL (p-value = 0.02). Although, rs1800790 G > A of FGB gene was not associated with RPL, its combination with rs5918 polymorphism was associated with increased risk of RPL. Owing to the critical roles of FGB and HPA-1 genes in coagulation, and thrombosis and several confinements on the meaningful association between the combination of those polymorphism with risk of RPL, including them in the thrombophilia panel may increase detection rate of hereditary thrombophilia patients. However, further studies with larger sample sizes are required to shed light on the exact role of the studied gene polymorphism, especially rs1800790 G > A of FGB gene variant in pathogenesis of RPL.

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Childhood trauma and being at-risk for psychosis are associated with higher peripheral endocannabinoids

Psychological Medicine ◽

10.1017/s0033291719001946 ◽

2019 ◽

Vol 50 (11) ◽

pp. 1862-1871 ◽

Cited By ~ 2

Author(s):

E. Appiah-Kusi ◽

R. Wilson ◽

M. Colizzi ◽

E. Foglia ◽

E. Klamerus ◽

...

Keyword(s):

Risk Factors ◽

At Risk ◽

Childhood Trauma ◽

Childhood Maltreatment ◽

Peripheral Blood ◽

Endocannabinoid System ◽

History Of Childhood ◽

Increased Risk ◽

History Of

AbstractBackgroundEvidence has been accumulating regarding alterations in components of the endocannabinoid system in patients with psychosis. Of all the putative risk factors associated with psychosis, being at clinical high-risk for psychosis (CHR) has the strongest association with the onset of psychosis, and exposure to childhood trauma has been linked to an increased risk of development of psychotic disorder. We aimed to investigate whether being at-risk for psychosis and exposure to childhood trauma were associated with altered endocannabinoid levels.MethodWe compared 33 CHR participants with 58 healthy controls (HC) and collected information about previous exposure to childhood trauma as well as plasma samples to analyse endocannabinoid levels.ResultsIndividuals with both CHR and experience of childhood trauma had higher N-palmitoylethanolamine (p < 0.001) and anandamide (p < 0.001) levels in peripheral blood compared to HC and those with no childhood trauma. There was also a significant correlation between N-palmitoylethanolamine levels and symptoms as well as childhood trauma.ConclusionsOur results suggest an association between CHR and/or childhood maltreatment and elevated endocannabinoid levels in peripheral blood, with a greater alteration in those with both CHR status and history of childhood maltreatment compared to those with either of those risks alone. Furthermore, endocannabinoid levels increased linearly with the number of risk factors and elevated endocannabinoid levels correlated with the severity of CHR symptoms and extent of childhood maltreatment. Further studies in larger cohorts, employing longitudinal designs are needed to confirm these findings and delineate the precise role of endocannabinoid alterations in the pathophysiology of psychosis.

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Clinical characteristics and long-term clinical course of patients with Brugada syndrome without previous cardiac arrest: a multiparametric risk stratification approach

EP Europace ◽

10.1093/europace/euz288 ◽

2019 ◽

Cited By ~ 3

Author(s):

Konstantinos P Letsas ◽

George Bazoukis ◽

Michael Efremidis ◽

Stamatis Georgopoulos ◽

Panagiotis Korantzopoulos ◽

...

Keyword(s):

Risk Factors ◽

Risk Stratification ◽

Brugada Syndrome ◽

Clinical Characteristics ◽

Clinical Course ◽

Electrophysiological Study ◽

Rank Test ◽

History Of ◽

Event Rates

Abstract Aims Risk stratification in Brugada syndrome (BrS) still represents an unsettled issue. In this multicentre study, we aimed to evaluate the clinical characteristics and the long-term clinical course of patients with BrS. Methods and results A total of 111 consecutive patients (86 males; aged 45.3 ± 13.3 years) diagnosed with BrS were included and followed-up in a prospective fashion. Thirty-seven patients (33.3%) were symptomatic at enrolment (arrhythmic syncope). An electrophysiological study (EPS) was performed in 59 patients (53.2%), and ventricular arrhythmias were induced in 32 (54.2%). A cardioverter defibrillator was implanted in 34 cases (30.6%). During a mean follow-up period of 4.6 ± 3.5 years, appropriate device therapies occurred in seven patients. Event-free survival analysis (log-rank test) showed that spontaneous type-1 electrocardiogram pattern (P = 0.008), symptoms at presentation (syncope) (P = 0.012), family history of sudden cardiac death (P < 0.001), positive EPS (P = 0.024), fragmented QRS (P = 0.004), and QRS duration in lead V2 > 113 ms (P < 0.001) are predictors of future arrhythmic events. Event rates were 0%, 4%, and 60% among patients with 0–1 risk factor, 2–3 risk factors, and 4–5 risk factors, respectively (P < 0.001). Current multiparametric score models exhibit an excellent negative predictive value and perform well in risk stratification of BrS patients. Conclusions Multiparametric models including common risk factors appear to provide better risk stratification of BrS patients than single factors alone.

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Brugada syndrome: Case report

Srpski arhiv za celokupno lekarstvo ◽

10.2298/sarh1202084b ◽

2012 ◽

Vol 140 (1-2) ◽

pp. 84-90

Author(s):

Vesna Bisenic ◽

Sasa Hinic ◽

Mirjana Krotin ◽

Branislav Milovanovic ◽

Jelena Saric ◽

...

Keyword(s):

Family History ◽

Sudden Death ◽

Brugada Syndrome ◽

Troponin T ◽

Stable Condition ◽

St Segment Elevation ◽

St Segment ◽

History Of ◽

The Right

Introduction. Brugada syndrome is an arrhythmogenic disease characterized by coved ST segment elevation and J point elevation of at least 2 mm in at least two of the right precordial ECG leads (V1-3) and ventricular arrhythmias, syncope, and sudden death. Risk stratifications of patients with Brugada electrocardiogram are being strongly debated. Case Outline. A 23-year-old man was admitted to the Coronary Care Unit of the Clinical Centre ?Bezanijska kosa? due to weakness, fatigue and chest discomfort. The patient suffered from fainting and palpitations. There was a family history of paternal sudden death at 36 years. Electrocardiogram showed a coved ST segment elevation of 4 mm in leads V1 and V2, recognised as spontaneous type 1 Brugada pattern. Laboratory investigations revealed normal serum cardiac troponin T and serum potassium, and absence of inflammation signs. Echocardiographic finding was normal, except for a mild enlargement of the right atrium and ventricle. The diagnosis of Brugada syndrome was made by Brugada-type 1 electrocardiogram and the family history of sudden death <45 years. The patient was considered as a high risk, because of pre-syncope and palpitations. He underwent ICD implantation (Medtronic MaximoVR7232Cx) using the standard procedure. After implantation, noninvasive electrophysiology study was done and demonstrated inducible VF that was interrupted with the second 35 J DC shock. The patient was discharged in stable condition with beta-blocker therapy. After a year of pacemaker check-ups, there were no either VT/ VF events or ICD therapy. Conclusion. Clinical presentation is the most important parameter in risk stratification of patients with Brugada electrocardiogram and Brugada syndrome.

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Insights for Stratification of Risk in Brugada Syndrome

European Cardiology Review ◽

10.15420/ecr.2018.31.2 ◽

2019 ◽

Vol 14 (1) ◽

pp. 45-49 ◽

Cited By ~ 5

Author(s):

Daniel García Iglesias ◽

José Rubín ◽

Diego Pérez ◽

César Morís ◽

David Calvo

Keyword(s):

Risk Stratification ◽

Brugada Syndrome ◽

Cardiac Death ◽

Scientific Community ◽

Genetic Disorders ◽

Inherited Disease ◽

Future Directions ◽

Patient Protection ◽

Several Variables ◽

Increased Risk

Brugada syndrome (BrS) is an inherited disease with an increased risk of sudden cardiac death (SCD). However, testing identifies genetic disorders in only 20–30% of patients analysed, indicating a gap in knowledge of its genetic aetiology. Diagnosis relies on ECG, and risk stratification in BrS patients is challenging, primarily because of the complexity of the issue. As a result, clinicians fail to provide the appropriate strategy for SCD prevention for many patients. Several variables and interventions are being studied to improve diagnostics and maximise patient protection. In addition, the scientific community must increase efforts to provide patient care according to knowledge and research for improving stratification of risk. In this article, the authors summarise contemporary evidence on clinical variables and provide an overview of future directions in risk stratification and SCD prevention.

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