Tarek Sayed

Genome-wide association study of febrile seizures identifies seven new loci implicating fever response and neuronal excitability genes

Publisher: Cold Spring Harbor Laboratory

Date: 20-11-2020

DOI: 10.1101/2020.11.18.20233916

Abstract: Febrile seizures represent the most common type of pathological brain activity in young children and are influenced by genetic, environmental, and developmental factors. While usually benign, in a minority of cases, febrile seizures precede later development of epilepsy. Here, we conducted a genome-wide association study of febrile seizures with 7,635 cases and 93,966 controls identifying and replicating seven new loci, all with P 5 × 10 −10 . Variants at two loci were functionally related to altered expression of the fever response genes PTGER3 and IL10 , and four other loci harbored genes ( BSN, ERC2, GABRG2, HERC1 ) influencing neuronal excitability by regulating neurotransmitter release and binding, vesicular transport or membrane trafficking at the synapse. GABRG2 is a well-established epilepsy gene comprising variants associated with febrile seizures, and overall we found positive genetic correlations with epilepsies ( r g = 0.39, P = 1.68 × 10 −4 ). Finally, a polygenic risk score based on all genome-wide significant loci was associated within patients with number of hospital admissions with febrile seizures and age at first admission, suggesting potential clinical utility of improved genetic understanding of febrile seizure genesis.

Forecasting cyanobacterium Anabaena spp. in the River Murray, South Australia, using B-spline neurofuzzy models

Publisher: Elsevier BV

Date: 12-2001

DOI: 10.1016/S0304-3800(01)00298-8

A systematic mapping review of surrogate safety assessment using traffic conflict techniques

Publisher: Elsevier BV

Date: 04-2021

DOI: 10.1016/J.AAP.2021.106016

A bivariate extreme value model for estimating crash frequency by severity using traffic conflicts

Publisher: Elsevier BV

Date: 12-0012

DOI: 10.1016/J.AMAR.2021.100180

Forecasting Cyanobacterial Concentrations Using B-Spline Networks

Publisher: American Society of Civil Engineers (ASCE)

Date: 07-2000

DOI: 10.1061/(ASCE)0887-3801(2000)14:3(183)

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Publisher: American Association for the Advancement of Science (AAAS)

Date: 10-08-2021

DOI: 10.1126/SCIIMMUNOL.ABL4340

Abstract: Autoantibodies neutralizing type I IFNs increase in prevalence over 60 years of age and underlie about 20% of all fatal COVID-19 cases.

Provocation of latent left ventricular outflow tract gradients with amyl nitrite and exercise in hypertrophic cardiomyopathy

Publisher: Elsevier BV

Date: 04-1995

DOI: 10.1016/S0002-9149(99)80416-0

Abstract: Amyl nitrite may be used to provoke latent gradients in patients with hypertrophic cardiomyopathy (HC) without significant resting outflow tract gradients, but afterload reduction may not be comparable to a more physiologic stressor such as symptom-limited exercise testing. This study compared the ability of amyl nitrite and exercise testing to provoke outflow tract gradients in 57 patients (40 men and 17 women, mean age +/- SD 49 +/- 16 years) with HC (septal thickness 19 +/- 5 mm, average resting gradient 13 +/- 10 mm Hg) who underwent echocardiography at rest, after amyl nitrite inhalation, and after maximal exercise. No significant gradient (< 50 mm Hg) was induced after either provocation in 26 patients (46%) in 15 patients (26%), inducibility was achieved after both stressors, in 6 (11%) after exercise only, and in 10 (18%) after amyl only. Patients with amyl-induced gradients differed from those in whom gradients were noninducible on the basis of smaller outflow tract dimensions (p < 0.001), larger resting gradients (p < 0.001), and a greater prevalence of "septal bulge" morphology (p = 0.02). Those with exercise-induced gradients were able to attain a greater workload (p = 0.07), have larger resting gradients (p = 0.02), and also tended to have a septal bulge morphology (p < or = 0.01). Although outflow tract obstruction increased to similar levels after amyl nitrite (49 +/- 39 mm Hg) and symptom-limited exercise (47 +/- 39 mm Hg), gradients induced by exercise and amyl correlated poorly (r = 0.54).(ABSTRACT TRUNCATED AT 250 WORDS)

Author Correction: Genetic effects on the timing of parturition and links to fetal birth weight

Publisher: Springer Science and Business Media LLC

Date: 10-05-2023

DOI: 10.1038/S41588-023-01412-Z

IT University Of Copenhagen

Location: Denmark

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University Of Southern Denmark

Location: Denmark

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Region Zealand

Location: Denmark

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Zealand University Hospital Køge

Location: Denmark

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Københavns Universitet

Location: Denmark

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Discovery Projects - Grant ID: DP210102089

Start Date: 08-2021

End Date: 08-2024

Amount: $422,000.00

Funder: Australian Research Council