1270The epidemiological and phenotypic characteristics of SCD victims with ARVC in Sweden between 2000-2010: a Nationwide study

EP Europace ◽  
2020 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
V Kommata ◽  
A Delgado-Vega ◽  
A Wisten ◽  
E Hagstrom ◽  
E L Stattin
Keyword(s):  
Physical Activity ◽  
Family History ◽  
Ventricular Arrhythmias ◽  
Positive Family History ◽  
Family Members ◽  
Significant Risk ◽  
Activity Level ◽  
Nationwide Study ◽  
Cardiac Symptoms ◽  
History Of

Abstract Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is autosomal dominant inherited, and associated with a significant risk of sudden cardiac death (SCD) due to a progressive fibrofatty replacement of the myocardium predisposing for ventricular arrhythmias. It is a main cause of SCD in individuals younger than 40 years of age. The prevalence of ARVC in young individuals with SCD in Sweden has recently been approximated to 4 %, but the characteristics of these patients have not been described before. Purpose To study the patient characteristics, physical activity level, medical history, family history and symptoms prior death in subjects who died due to ARVC. Methods A retrospective study of all subjects aged 1-35 years who died a SCD due to ARVC in Sweden between 1 January 2000 and 31 December 2010. The diagnosis ARVC was based on data from a forensic or clinical autopsy and a histological examination. We also collected data from the police report, medical records, as well as through interviews with family members. Results A total of 552 individuals died from SCD during the study period. The study population consists of 22 cases with autopsy verified ARVC. In our cohort there were included 14 males and 8 females. The mean age was 23.7 years old (min age: 13, max age: 35). Two subjects were diagnosed with ARVC prior to the SCD. In addition, one subject had survived a cardiac arrest a few years before, and got diagnosed with Long QT Syndrome. Another subject was diagnosed with myocarditis just a few months before death. Further, four subjects had a history of ventricular tachycardia, and three subjects had a history of seizures. Fifteen of the subjects had experienced cardiac symptoms before SCD nine had a history of syncope, presyncope or both; six subjects had experienced chest discomfort; nine subjects had a history of palpitations. In total, eight of fifteen subjects had sought medical care prior to SCD because of cardiac symptoms. The majority of the cases were physically active, five participated in competitive sports and 12 in recreational activities. Regarding the type of physical activity, 15/22 participated in a high dynamic physical activity. Twelve subjects had a positive family history of SCD. In 10 cases, there was a family history of SCD, but only in two in a first degree relative. Three family members had ICD. In four cases there was a family history of cardiomyopathy (one case with Hypertrophic Cardiomyopathy, one with myocarditis, and two with ARVC). CPVT was also diagnosed in one family prior to SCD.  Conclusions In this nationwide study of SCD in the young, only two of the 22 subjects had a clinical diagnosis of ARVC prior to death, despite that, most of the individuals had either a history of ventricular arrhythmias or had experienced cardiac symptoms.

scholarly journals The Prevalence rate of Hypertension in Rural Population of Bangladesh

2012 ◽  
Vol 18 (1) ◽  
pp. 12-17 ◽  
Author(s):  
MA Rahim ◽  
MM Rahman ◽  
M Rahman ◽  
F Ahmed ◽  
J Chowdhury ◽  
...  
Keyword(s):  
Physical Activity ◽  
Blood Pressure ◽  
Family History ◽  
Rural Population ◽  
Prevalence Rate ◽  
Positive Family History ◽  
Significant Risk ◽  
Major Health Problem ◽  
History Of ◽  
Family History Of Hypertension

Background: The non-communicable diseases like hypertension, diabetes and asthma are emerging as a major health problem in Bangladesh. Recently, these are given high research priority by the Government of Bangladesh. The prevalence of hypertension is increasing rapidly, but there is no current study on prevalence of hypertension in rural population of Bangladesh. There are some studies conducted on prevalence of hypertension from mid 70's to late 90's. Those studies showed the prevalence of hypertension is increasing significantly in both urban and rural population. In rural population the prevalence of hypertension was in 23.6% 1. After that there is no population based study was conducted on prevalence of hypertension in rural population of Bangladesh. Methods: We measured blood pressure, body weight and height of 532 individuals at and above the age of 20 years (age range 20-70 years) of both sexes accept pregnant and those who were under medication of hypertension. We collected information about smoking, family history of hypertension, status of physical activity, diabetes, annual income etc. Result: The overall prevalence rate of hypertension was 30.64% (male 31.53% and female 29.36%). In the study, the blood pressure was measured in all study subjects. The mean blood pressure was higher in hypertensive participants than that of non hypertensive. The prevalence of hypertension (30.64%) observed in this study was higher than the previous study. In this study showed that with the increasing age more the prevalence of hypertension. The similar funding also observed in recent Indian study. Our study showed that the hypertension prevalence was high among people with high BMI and obesity, positive family history, smoking and less physical activity. Conclusion: The prevalence of hypertension in the rural population was found to be on the increased compare to previous reports of Bangladesh and other Asian studies. Advanced age, obesity, higher incomes, family history of hypertension, smoking and reduced physical activity were proved significant risk factors for hypertension, whereas, sex, occupation, showed no association with hypertension. DOI: http://dx.doi.org/10.3329/jdnmch.v18i1.12225 J. Dhaka National Med. Coll. Hos. 2012; 18 (01): 12-17

Television Viewing and Pediatric Hypercholesterolemia

PEDIATRICS ◽  
1992 ◽  
Vol 90 (1) ◽  
pp. 75-79 ◽  
Author(s):  
Nathan D. Wong ◽  
Thomas K. Hei ◽  
Paul Y. Qaqundah ◽  
Dennis M. Davidson ◽  
Stanley L. Bassin ◽  
...  
Keyword(s):  
Physical Activity ◽  
Family History ◽  
Cholesterol Level ◽  
Television Viewing ◽  
Positive Family History ◽  
High Cholesterol ◽  
Predictive Values ◽  
Cholesterol Screening ◽  
High Cholesterol Level ◽  
History Of

Cholesterol screening for children is recommended currently only for those with a family history of premature coronary heart disease or hyperlipidemia. The authors report on a pediatric-office-based cholesterol screening program where the predictive values of family history indicators were evaluated along with reported television viewing, physical activity, and dietary habits in 1081 children (aged 2 to 20 years, mean 7.4 ± 3.6 [SD] years). Eight percent of these children had a total cholesterol value of 200 mg/dL or higher; 53% of such children reported watching 2 or more hours of television daily compared with 34% of children with lower cholesterol levels. Multivariate analyses revealed that excessive television viewing was the strongest predictor for a child to have a cholesterol value of 200 mg/dL or higher, with relative risks of 2.2 for 2 to 4 hours of television viewing per day (P < .01) and 4.8 for children watching more than 4 hours/day, when compared to those watching less than 2 hours/day (P < .01). In contrast, a positive family history of a high cholesterol level was only modestly associated with an increased probability of having a high cholesterol level (relative risk 1.6, P < .05), and a history of premature myocardial infarction in a parent or grandparent was not associated with a child's cholesterol level. Excessive television viewing was found to be associated with certain dietary and physical activity habits and may prove to be a useful, global marker for several life-style factors predisposing children to hypercholesterolemia.

Postpartal psychosis: Serbian experience

2011 ◽  
Vol 26 (S2) ◽  
pp. 1098-1098
Author(s):  
M. Jasovic-Gasic ◽  
A. Damjanovic ◽  
M. Ivkovic ◽  
B. Dunjic-Kostic
Keyword(s):  
Family History ◽  
Psychiatric Disorders ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
Significant Risk ◽  
Significant Risk Factor ◽  
Psychiatric Disturbances ◽  
Psychological Disturbances ◽  
Clinical Center ◽  
History Of

IntroductionChildbirth and the postpartal period present a form of specific maturational crisis and an extremely vulnerable period for every woman, especially for those who have potential for some psychological disturbances.AimWe explored sociodemographic and clinical manifestations of women in the postpartal period who were hospitalized at the Institute of Psychiatry, Clinical Center of Serbia.MethodThis retrospective study included 60 patients with psychiatric disorders developed within six months after childbirth. Inclusion criteria were: negative psychiatric hystory, negative history of puerperal episode, and postpartal disorder as a first manifestation of psychiatric disturbances. Patients were diagnosed according to RDC criteria (research diagnostic criteria).ResultsPatients with psychotic features were predominant, average age 23.6; married; mothers of male offspring and with positive family history of psychiatric disorders in 30%. Subacute development of clinical manifestations was noticed, 3.5 weeks after childbirth on average. No psychopathology was observed before third postpartal day. Obstetric manifestations did not influence psychopathology.ConclusionChildbirth is a significant risk factor for the expression of mental dysfunction in the puerperal period. The most vulnerable group is women with clinical expression of dysfunction, specific sociodemographic characteristics, and positive family history of psychiatric disorders.

scholarly journals We are Family

2010 ◽  
Vol 8 (1) ◽  
pp. 88-97 ◽  
Author(s):  
Alexander Omolafe ◽  
Michele Mouttapa ◽  
Shari McMahan ◽  
Sora Park Tanjasiri
Keyword(s):  
Physical Activity ◽  
Risk Factors ◽  
Type 2 Diabetes ◽  
Family History ◽  
African Americans ◽  
Positive Family History ◽  
Self Report ◽  
Cross Sectional ◽  
History Of

This cross-sectional study sought to describe an association between family history of type-2 diabetes and the awareness of risk factors, perceived threat and physical activity levels in African Americans. With a prevalence of 11.8%, African Americans remain disproportionately affected by the epidemic of diabetes. A risk factor that cannot be modified, but is important and closely linked with diabetes expression, family history, can be a considerable tool in promoting behavior change and reducing the risk of developing the condition in African Americans. A self-report questionnaire was administered to 133 church going African Americans, with 55 of them with a positive family history of type-2 diabetes (41.4%) and 78 (58.6%) without. None of the participants had been previously been diagnosed with type-2 diabetes. The results from the study indicated that African Americans with positive family history had a greater knowledge of risk factors, were more likely to indicate that their concern about the disease influences their eating habits and physical activity, and engaged in significantly more physical activity than those with no family history.

scholarly journals Does the Age of Sudden Cardiac Death in Family Members Matter in Brugada Syndrome?

2021 ◽  
Author(s):  
Pattara Rattanawong ◽  
Jakrin Kewcharoen ◽  
Chanavuth Kanitsoraphan ◽  
Timothy Barry ◽  
Anusha Shanbhag ◽  
...  
Keyword(s):  
Family History ◽  
Sudden Cardiac Death ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Meta Analysis ◽  
Positive Family History ◽  
Family Members ◽  
Increased Risk ◽  
History Of ◽  
Risk Predictor

Background Brugada syndrome is an inherited cardiac channelopathy associated with major arrhythmic events (MAEs). The presence of a positive family history of sudden cardiac death (SCD) as a risk predictor of MAE remains controversial. We aimed to examine the association between family history of SCD and MAEs stratified by age of SCD with a systematic review and meta‐analysis. Methods and Results We searched the databases of MEDLINE and EMBASE from January 1992 to January 2020. Data from each study were combined using the random‐effects model. Fitted metaregression was performed to evaluate the association between the age of SCD in families and the risk of MAE. Twenty‐two studies from 2004 to 2019 were included in this meta‐analysis involving 3386 patients with Brugada syndrome. The overall family history of SCD was not associated with increased risk of MAE in Brugada syndrome (pooled odds ratio [OR], 1.11; 95% CI, 0.82–1.51; P =0.489, I 2 =45.0%). However, a history of SCD in family members of age younger than 40 years of age did increase the risk of MAE by ≈2‐fold (pooled OR, 2.03; 95% CI, 1.11–3.73; P =0.022, I 2 =0.0%). When stratified by the age of cut point at 50, 45, 40, and 35 years old, a history of SCD in younger family member was significantly associated with a higher risk of MAE (pooled OR, 0.49, 1.30, 1.51, and 2.97, respectively; P =0.046). Conclusions A history of SCD among family members of age younger than 40 years was associated with a higher risk of MAE.

scholarly journals Life style effects on hypertension and obesity in adolescents

2020 ◽  
Vol 7 (2) ◽  
pp. 377
Author(s):  
Sonia Bhatt ◽  
Shehraz Firoz
Keyword(s):  
Physical Activity ◽  
Risk Factors ◽  
Family History ◽  
Fast Food ◽  
Positive Family History ◽  
Age Group ◽  
Lifestyle Modifications ◽  
Dietary Practices ◽  
History Of ◽  
Associated Risk Factors

Background: Studies based on effects of lifestyle on hypertension and obesity in adolescent age group are lacking in India. The present study was conducted to evaluate the prevalence of lifestyle associated risk factors in school going adolescents of Kendriya Vidyalaya in district Firozabad and their effects on hypertension and obesity.Methods: The study was carried out among 200 students of classes 9th and 11th in the age group of 13 to 17 years. Students were given a pre-designed questionnaire and feedback was taken about dietary practices and physical activity along with family history of hypertension and obesity. Height, weight, waist circumference, hip circumference, blood pressure was measured in all children. Effects of lifestyle associated risk factors were determined on obesity and hypertension.Results: The study documents that inappropriate dietary practices (fast food consumption, low fruit intake) and less physical activity were strongly associated with high prevalence of obesity and hypertension in the adolescents. The study also showed that adolescents with positive family history of obesity and/or hypertension are also at higher risk. There was a positive correlation between high BMI and hypertension.Conclusions: School based interventions are required to educate the adolescent children about lifestyle modifications to reduce the morbidity associated with non-communicable diseases.

Positive family history of aortic dissection dramatically increases dissection risk in family members

2017 ◽  
Vol 240 ◽  
pp. 132-137 ◽  
Author(s):  
Wei-Guo Ma ◽  
Alan S. Chou ◽  
Salvior C.M. Mok ◽  
Bulat A. Ziganshin ◽  
Paris Charilaou ◽  
...  
Keyword(s):  
Family History ◽  
Aortic Dissection ◽  
Positive Family History ◽  
Family Members ◽  
History Of

scholarly journals Clinical Exome Sequencing Unravels New Disease Causing Mutations in Myeloproliferative Neoplasms (MPNs): A Pilot Study in Patients from the State of Qatar

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 5520-5520 ◽  
Author(s):  
Mohamed A. Yassin ◽  
Nader I Al-Dewik
Keyword(s):  
Family History ◽  
Candidate Genes ◽  
Conflicts Of Interest ◽  
Myeloproliferative Neoplasms ◽  
Positive Family History ◽  
Family Members ◽  
Jak2 V617f ◽  
New Disease ◽  
Novel Mutations ◽  
History Of

In Qatar, a cluster of ET familial cases (25 families from 5 major tribes) has been documented. This observation represents a unique interest for the scientific community worldwide, as the cultural traditions of tribal marriages between 1stcousins is expected to lead to the preservation of a limited genetic pool (giving rise to founder effects). CES was employed to analyze a 3 probands from three unrelated families (S1, S2, S3). All 6 patients were Qatari belonging to consanguineous families with a positive family history of MPNs. CES confirmed the diagnosis in the 3 probands: two patients (S1 and S2) were classified as Essential Thrombocythemia (ET), one patient (S3) as unclassified MPNs. In the other 3 subjects (S4, S4, S6), several shared deleterious mutations and polymorphisms were uncovered. CES identified 10 novel mutations in known genes as well as 7 novel candidate genes and 2 (6%) previously reported mutations in the three probands (S1, S2, S3) who's diagnosis was confirmed . S1: a confirmed diagnosis and phenotype of ET (JAK2 and THPO), S2: a confirmed diagnosis and phenotype of ET (JAK2 and MPL) and S3: a confirmed diagnosis of U-MPNs (TERT, ATM, NUMA1 and ASXL) The mutations/variants were classified according to ACMG recommendations into 5 classes. The number of mutations/variants detected in each class is as follows: Class 1 - Previously reported as disease-causing: 6 Class 2 - Previously unreported, but of the type which can cause the disorder: 3 Class 3 - Previously unreported, may or may not be the cause of the disorder (Variant of uncertain clinical significance): 48 Class 4 - Previously unreported but likely neutral: 1 Class 5 - Previously reported as neutral: 3 CES identified a total of 61 interesting variants which occurred in 50 genes, 13 were recurrently. The vast majority of the prioritized variants were missense 50(82%); the remaining were frameshift (small insertions and deletions) 10(16%) or affecting splicing sites 1(2%). The most interesting finding is the presence of 10 novel mutations in known genes related to MPNs as well as 7 variants in novel candidate genes in the three probands who's diagnosis was confirmed via CES. This study presents novel data that contributes to understanding the high level of genetic complexity in MPNs Qatari patients. It has identified new variants in cancer-related genes potentially involved in the pathogenesis of the disease Our study of familial MPNs led to the identification of new disease-causing mutations and variants, some previously described as either germline or somatic. A clinical cohort of 3 Qatari probands suspected to have MPNs as well as three family members with a positive family history of MPNs presented at National Center for Cancer Care (NCCCR) S1) is a female who presented with high hemoglobin (Hb) level, red blood cells (RBCs) count, leukocytosis with neutrophilia, very high platelets and normal erythropoietin (EPO); subject 2 (S2) is a female who presented with normal Hb, RBCs count, slightly high WBCs and high platelets; subject 3 (S3) is a male who presented with high Hb, normal WBCs and EPO 3 family members, subject 4 -a mother presented with normal Hb level, sustained high RBCs count and slightly high WBCs count, subject 5 a daughter presented with unexplained sustained erythrocytosis, leukocytosis (absolute neutrophilia, for more than 2 years Chronic headache, normal MRI brain and no progression to cancer no Ischemic events, subject 6- healthy daughter with normal CBC indicesThe pattern of mutations identified was unique. In this study 10 novel mutations in known genes already implicated in the pathogenesis of MPNs were detected including THPO, CBL, ASXL1, MPL (2x), BCL2, MYO18B, MTOR, PDGFRB, TERT. Mutations/variants were detected in 9 genes not previously associated with MPNs suggesting potential novel gene associations. Pathogenic/likely pathogenic mutations, uncertain variants and neutral/likely neutral variants were identified using the CES approach. A complex combination of mutations was observed in our cohort of subjects. For example in subject 1 (S1), an ET patient, the following mutations were observed: THPO S184R, ITGA2 R76Q, JAK2 V617F, CBL E196G, CBFB G180S, FANCA S858R, ASXL1 T600P fs103. The following detailed analysis of each mutation reveals that all these mutations could potentially play a role in the pathogenesis of MPNs Disclosures No relevant conflicts of interest to declare.

scholarly journals Multiple familial trichoepitheliomas: a case report

2021 ◽  
Vol 7 (3) ◽  
pp. 487
Author(s):  
Priyadharshini N. ◽  
Harini Irri ◽  
Sathyanarayanan R.
Keyword(s):  
Case Report ◽  
Family History ◽  
Malignant Transformation ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Family Members ◽  
Histopathological Findings ◽  
Multiple Lesions ◽  
Adnexal Tumor ◽  
History Of

<p class="abstract">Trichoepithelioma is a rare benign adnexal tumor that differentiates towards the folliculo-sebaceous-apocrine unit (trichoblast). It may present as solitary non-familial lesion or multiple lesions as a part of autosomal dominant inherited syndrome known as multiple familial Trichoepithelioma. Multiple familial trichoepithelioma is a relatively rare, disfiguring, benign adnexal neoplasm diagnosed by centrofacial distribution of papules and nodules, positive family history, related histopathological findings and can rarely undergo malignant transformation. Treatment is mainly for cosmetic concern. Here we report a case who presented with multiple skin coloured facial papules and nodules, with a history of similar lesions in other family members. Dermoscopy and histopathology confirmed the diagnosis of trichoepitheliomas.</p>

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