Rhythm abnormalities of the fetus.
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ABSTRACT:
SUBMITTER: Hornberger LK
PROVIDER: S-EPMC2000955 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundGenetic deletions at Xp22.31 are associated with the skin condition X linked ichthyosis (XLI), and with a substantially increased risk of atrial fibrillation/flutter (AF), in males. AF is associated with elevated thrombosis, heart failure, stroke and dementia risk.MethodsThrough: (a) examining deletion carriers with a diagnosis of AF in UK Biobank, (b) undertaking an online survey regarding abnormal heart rhythms (AHRs) in men/boys with XLI and female carriers of XLI-associated deletions and (c) screening for association between common genetic variants within Xp22.31 and idiopathic AF-related conditions in UK Biobank, we have investigated how AHRs manifest in deletion carriers, and have identified associated risk factors/comorbidities and candidate gene(s). Finally, we examined attitudes towards heart screening in deletion carriers.ResultsWe show that AHRs may affect up to 35% of deletion carriers (compared with <20% of age-matched non-carriers), show no consistent pattern of onset but may be precipitated by stress, and typically resolve quickly and respond well to intervention. Gastrointestinal (GI) conditions and asthma/anaemia were the most strongly associated comorbidities in male and female deletion carriers with AHR, respectively. Genetic analysis indicated significant enrichment of common AF risk variants around STS (7 065 298-7 272 682 bp in GRCh37/hg19 genome build) in males, and of common GI disorder and asthma/anaemia risk variants around PNPLA4 (7 866 804-7 895 780 bp) in males and females, respectively. Deletion carriers were overwhelmingly in favour of cardiac screening implementation.ConclusionOur data suggest AHRs are frequently associated with Xp22.31 deletion, and highlight subgroups of deletion carriers that may be prioritised for screening. Examining cardiac function further in deletion carriers, and in model systems lacking steroid sulfatase, may clarify AF pathophysiology.
| S-EPMC10359567 | biostudies-literature
Project description:BackgroundThe frequency of cardiac rhythm abnormalities and their risk factors in community-dwelling adults are not well characterized.MethodsWe determined the frequency of rhythm abnormalities in the UK Biobank, a national prospective cohort. We tested associations between risk factors and incident rhythm abnormalities using multivariable proportional hazards regression.ResultsOf 502 627 adults (median age, 58 years [interquartile range, 13]; 54.4% women), 2.35% had a baseline rhythm abnormality. The prevalence increased with age with 4.84% of individuals aged 65 to 73 years affected. During 3 368 332 person-years of follow-up, 15 906 new rhythm abnormalities were detected (4.72 per 1000 person-years; 95% confidence interval [CI]: 4.65-4.80). Atrial fibrillation (3.11 per 1000 person-years; 95% CI: 3.05-3.17), bradyarrhythmias (0.89 per 1000 person-years; 95% CI: 0.86-0.92), and conduction system diseases (1.06 per 1000 person-years; 95% CI: 1.02-1.09) were more common than supraventricular (0.51 per 1000 person-years; 95% CI: 0.48-0.53) and ventricular arrhythmias (0.57 per 1000 person-years; 95% CI: 0.55-0.60). Older age (hazard ratio [HR]: 2.35 per 10-year increase; 95% CI: 2.29-2.41; P<0.01), male sex (HR: 1.83; 95% CI: 1.76-1.89; P<0.01), hypertension (HR: 1.49; 95% CI: 1.44-1.54; P<0.01), chronic kidney disease (HR: 1.95; 95% CI: 1.67-2.27; P<0.01), and heart failure (HR: 1.99; 95% CI: 1.76-2.26; P<0.01) were associated with new rhythm abnormalities.ConclusionsThe frequency of rhythm abnormalities in middle-aged to older community-dwelling adults is substantial. Atrial fibrillation, bradyarrhythmias, and conduction system diseases account for most rhythm conditions.
| S-EPMC6051725 | biostudies-literature
Project description:BACKGROUND AND OBJECTIVES:Cardiac arrhythmias increase mortality and morbidity in CKD. We evaluated the rates of subclinical arrhythmias in a population with type 2 diabetes and patients with moderate to severe CKD who were not on dialysis. DESIGN, SETTING, PARTICIPANTS & MEASUREMENTS:This is a prospective observational study, using continuous ambulatory cardiac monitors to determine the rate of atrial and ventricular arrhythmias, as well as conduction abnormalities in this group. RESULTS:A total of 38 patients (34% women), with mean eGFR of 38±13 ml/min per 1.73 m2, underwent ambulatory cardiac monitoring for 11.2±3.9 days. The overall mean rate of any cardiac arrhythmia was 88.8 (95% confidence interval [95% CI], 27.1 to 184.6) episodes per person-year (PY). A history of cardiovascular disease was associated with a higher rate of detected arrhythmia (rate ratio, 5.87; 95% CI, 1.37 to 25.21; P<0.001). The most common arrhythmia was atrial fibrillation, which was observed in two participants with known atrial fibrillation and was a new diagnosis in four patients (11%), none of whom experienced symptoms. Overall, atrial fibrillation episodes occurred at a rate of 37.6 (95% CI, 2.4 to 112.3) per PY. Conduction abnormalities were found in eight patients (21%), a rate of 26.5 (95% CI, 4.2 to 65.5) per PY. Rates of ventricular arrhythmias were low (14.5 per PY; 95% CI, 4.3 to 32.0) and driven by premature ventricular contractions. CONCLUSIONS:Cardiac rhythm abnormalities are common in patients with diabetes with moderate to severe CKD not requiring dialysis. Rates of atrial fibrillation are high and episodes are asymptomatic. Future studies are needed to determine the role of screening and upstream therapy of cardiac arrhythmias in this group.
| S-EPMC6450349 | biostudies-literature
Project description:Clinical and research studies have suggested a link between Parkinson's disease (PD) and alterations in the circadian clock. Drosophila melanogaster may represent a useful model to study the relationship between the circadian clock and PD. Apart from the conservation of many genes, cellular mechanisms, signaling pathways, and neuronal processes, Drosophila shows an organized central nervous system and well-characterized complex behavioral phenotypes. In fact, Drosophila has been successfully used in the dissection of the circadian system and as a model for neurodegenerative disorders, including PD. Here, we describe the fly circadian and dopaminergic systems and report recent studies which indicate the presence of circadian abnormalities in some fly PD genetic models. We discuss the use of Drosophila to investigate whether, in adults, the disruption of the circadian system might be causative of brain neurodegeneration. We also consider approaches using Drosophila, which might provide new information on the link between PD and the circadian clock. As a corollary, since PD develops its symptomatology over a large part of the organism's lifespan and given the relatively short lifespan of fruit flies, we suggest that genetic models of PD could be used to perform lifelong screens for drug-modulators of general and/or circadian-related PD traits.
| S-EPMC6321023 | biostudies-other
Project description:BackgroundInterstitial microdeletions in 1p are extremely rare, as very few cases have been reported postnatally and only one prenatally, yet. There is a variability of phenotypic findings such as hypotonia, facial dysmorphisms, mild microcephaly, with being most common developmental delay.Case presentationThe present case involved a female fetus with an interstitial deletion on 1p, presenting with micrognathia in the 2nd trimester routine ultrasound examination. Array-based comparative genomic hybridization (a-CGH) revealed a 2,7 Mb deletion located on 1p34.3 which could not be detected by standard karyotyping.ConclusionsThis is the first prenatal case of an interstitial deletion in 1p34.3 with facial dysmorphism detected by a-CGH. Due to the use of a-CGH techniques submicroscopic imbalances could be detected, and a refined genotype-phenotype correlation could be achieved.
| S-EPMC5053025 | biostudies-literature
Project description:Background: Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare heritable connective tissue disease with various symptoms. The diagnosis of mcEDS is difficult because of the large overlap of clinical symptoms between different EDS subtypes. Methods: We performed karyotype analysis, gene copy number variation detection, whole-exome sequencing, and Sanger sequencing to reveal the underlying genetic etiology of a fetus with structural abnormalities in feet and kidneys. Results: A likely pathogenic mutation [NM_130468.3 c.958C>T (p.Arg320*)] and an uncertain significance mutation [NM_130468.3 c.896A>G (p.Tyr299Cys)] were identified in the carbohydrate sulfotransferase 14 (CHST14) gene by whole-exome sequencing and validated by Sanger sequencing. Conclusion: The two identified mutations appear highly likely to be the genetic causes of the fetal structural abnormalities.
| S-EPMC9024400 | biostudies-literature
Project description:Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME) patients frequently show autonomic symptoms which may be associated with a hypothalamic dysfunction. This study aimed to explore circadian rhythm patterns in rest and activity and distal skin temperature (DST) and their association with self-reported outcome measures, in CFS/ME patients and healthy controls at two different times of year. Ten women who met both the 1994 CDC/Fukuda definition and 2003 Canadian criteria for CFS/ME were included in the study, along with ten healthy controls matched for age, sex and body mass index. Self-reported measures were used to assess fatigue, sleep quality, anxiety and depression, autonomic function and health-related quality of life. The ActTrust actigraph was used to record activity, DST and light intensity, with data intervals of one minute over seven consecutive days. Sleep variables were obtained through actigraphic analysis and from subjective sleep diary. The circadian variables and the spectral analysis of the rhythms were calculated. Linear regression analysis was used to evaluate the relationship between the rhythmic variables and clinical features. Recordings were taken in the same subjects in winter and summer. Results showed no differences in rhythm stability, sleep latency or number of awakenings between groups as measured with the actigraph. However, daily activity, the relative amplitude and the stability of the activity rhythm were lower in CFS/ME patients than in controls. DST was sensitive to environmental temperature and showed lower nocturnal values in CFS/ME patients than controls only in winter. A spectral analysis showed no differences in phase or amplitude of the 24h rhythm, but the power of the second harmonic (12h), revealed differences between groups (controls showed a post-lunch dip in activity and peak in DST, while CFS/ME patients did not) and correlated with clinical features. These findings suggest that circadian regulation and skin vasodilator responses may play a role in CFS/ME.
| S-EPMC5991397 | biostudies-literature
Project description:ObjectiveTo identify ECG changes in sinus rhythm that may be used to predict subsequent development of new AF.MethodWe identified prospective and retrospective cohort or case control studies evaluating ECG patterns from a 12-lead ECG in sinus rhythm taken in hospital or community predicting subsequent development of new AF. For each identified ECG predictor, we then identify absolute event rates and pooled risk ratios (RR) using an aggregate level random effects meta-analysis.ResultsWe identified 609,496 patients from 22 studies. ECG patterns included P wave terminal force V1 (PTFV1), interatrial block (IAB) and advanced interatrial block (aIAB), abnormal P wave axis (aPWA), PR prolongation and atrial premature complexes (APCs). Pooled risk ratios reached significance for each of these; PTFV1 RR 1.48 (95% CI 1.04-2.10), IAB 2.54 (95% CI 1.64-3.93), aIAB 4.05 (95% CI 2.64-6.22), aPWA 1.89 (95% CI 1.25-2.85), PR prolongation 2.22 (95% CI 1.27-3.87) and APCs 3.71 (95% CI 2.23-6.16). Diabetes reduced the predictive value of PR prolongation.ConclusionAPC and aIAB were most predictive of AF, while IAB, PR prolongation, PTFV1 and aPWA were also significantly associated with development of AF. These support their use in a screening tool to identify at risk cohorts who may benefit from further investigation, or following stroke, with empirical anticoagulation.
| S-EPMC10472966 | biostudies-literature
Project description:Comparsion of proteomes of Campylobacter fetus subsp. fetus to compare protein level via iBAQ analysis, expression (by LFQ) and coverage between Campylobacter fetus subsp. fetus strain82-40 vs Campylobacter fetus subsp. fetus strain ATCC 27374
2020-05-25 | PXD014538 | Pride
Project description:Circadian rhythms are endogenous 24-h oscillators that regulate the sleep/wake cycles and the timing of biological systems to optimize physiology and behavior for the environmental day/night cycles. The systems are basically generated by transcription-translation feedback loops combined with post-transcriptional and post-translational modification. Recently, evidence is emerging that additional non-coding RNA-based mechanisms are also required to maintain proper clock function. MicroRNA is an especially important factor that plays critical roles in regulating circadian rhythm as well as many other physiological functions. Circadian misalignment not only disturbs the sleep/wake cycle and rhythmic physiological activity but also contributes to the development of various diseases, such as sleep disorders and neurodegenerative diseases. The patient with neurodegenerative diseases often experiences profound disruptions in their circadian rhythms and/or sleep/wake cycles. In addition, a growing body of recent evidence implicates sleep disorders as an early symptom of neurodegenerative diseases, and also suggests that abnormalities in the circadian system lead to the onset and expression of neurodegenerative diseases. The genetic mutations which cause the pathogenesis of familial neurodegenerative diseases have been well studied; however, with the exception of Huntington's disease, the majority of neurodegenerative diseases are sporadic. Interestingly, the dysfunction of microRNA is increasingly recognized as a cause of sporadic neurodegenerative diseases through the deregulated genes related to the pathogenesis of neurodegenerative disease, some of which are the causative genes of familial neurodegenerative diseases. Here we review the interplay of circadian rhythm disruption, sleep disorders and neurodegenerative disease, and its relation to microRNA, a key regulator of cellular processes.
| S-EPMC7573810 | biostudies-literature