scholarly journals Are pediatric patients with epilepsy at higher risk for COVID-19 Retrospective analysis from Sidra Medicine, Doha-Qatar

2021 ◽  
pp. 7
Author(s):  
Keyword(s):  
Risk Factor ◽  
School Attendance ◽  
Dravet Syndrome ◽  
First Year ◽  
Local Spread ◽  
Containment Measures ◽  
Estimate Rate ◽  
First Year Of Life ◽  
System 1 ◽  
Patients With Epilepsy

The COVID-19 pandemic, caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), spread in few months from a small focus in Wuhan (Hubei province, China) to over 28 million people worldwide , COVID-19 is often more severe in people 60+yrs or with health conditions like lung ,heart disease, diabetes or conditions that affect their immune system (1). Several countries independently adopted strict containment measures to slow the local spread of SARS-CoV-2. As other countries, widespread lockdown measures were applied in Doha –Qatar from March 17 to June 1st 2020 that restricted physical contacts, individual movements including school attendance. This reflected during the beginning of the academic year 2020-2021 by parental fear to send their children with epilepsy back to their school considering that epilepsy could be a risk factor for covid19 infection. The prevalence of epilepsy in children ranges from 3.2 to 5.5 per 1000, being highest in the first year of life, but matching adult rates by the end of the first decade (2). Epilepsy in children is the second greatest neurological disorder burden worldwide (3), often associated with cognitive and psychiatric comorbidities (4). These patients were not highly susceptible to COVID-19 during the pandemic, the estimate rate of infection among pediatric patient with epilepsy was around (0.4%) for those who became sick. Meanwhile Viral infection is a risk factor for seizures in children with certain developmental and epileptic encephalopathies (DEE) with fever sensitivity, such as Dravet Syndrome and SCN1A-related phenotypes. We aimed to assess if the COVID-19 infection affected children with epilepsy in a higher rate than other children.

scholarly journals Dravet syndrome associated mutations in GABRA1, GABRB2 and GABRG2 define the genetic landscape of defects of GABAA receptors

2021 ◽  
Author(s):  
Ciria C Hernandez ◽  
XiaoJuan Tian ◽  
Ningning Hu ◽  
Wangzhen Shen ◽  
Mackenzie A Catron ◽  
...  
Keyword(s):  
Gabaa Receptor ◽  
De Novo ◽  
Epileptic Encephalopathy ◽  
Dravet Syndrome ◽  
First Year ◽  
Genes Encoding ◽  
Genetic Landscape ◽  
Clonic Seizures ◽  
Trafficking Defects ◽  
First Year Of Life

Abstract Dravet syndrome is a rare, catastrophic epileptic encephalopathy that begins in the first year of life, usually with febrile or afebrile hemiclonic or generalized tonic-clonic seizures followed by status epilepticus. De novo variants in genes that mediate synaptic transmission such as SCN1A and PCDH19 are often associated with Dravet syndrome. Recently, GABAA receptor subunit genes (GABRs) encoding α1 (GABRA1), β3 (GABRB3) and γ2 (GABRG2), but not β2 (GABRB2) or β1 (GABRB1), subunits are frequently associated with Dravet syndrome or Dravet syndrome-like phenotype. We performed next generation sequencing on 870 patients with Dravet syndrome and identified nine variants in three different GABRs. Interestingly, the variants were all in genes encoding the most common GABAA receptor, the α1β2γ2 receptor. Mutations in GABRA1 (c.644T>C, p.L215P; c.640C>T, p.R214C; c.859G>A; V287I; c.641G>A, p.R214H) and GABRG2 (c.269C>G, p.T90R; c.1025C>T, p.P342L) presented as de novo cases, while in GABRB2 two variants were de novo (c.992T>C, p.F331S; c.542A>T, p.Y181F) and one was autosomal dominant and inherited from the maternal side (c.990_992del, p.330_331del). We characterized the effects of these GABR variants on GABAA receptor biogenesis and channel function. We found that defects in receptor gating were the common deficiency of GABRA1 and GABRB2 Dravet syndrome variants, while mainly trafficking defects were found with the GABRG2 (c.269C>G, p.T90R) variant. It seems that variants in α1 and β2 subunits are less tolerated than in γ2 subunits, since variant α1 and β2 subunits express well but were functionally deficient. This suggests that all of these GABR variants are all targeting GABR genes that encode the assembled α1β2γ2 receptor, and regardless of which of the three subunits are mutated, variants in genes coding for α1, β2 and γ2 receptor subunits make them candidate causative genes in the pathogenesis of Dravet syndrome.

Age, stucture, growth rates and movements of sea mullet, Mugil cephalus L., and Yellow-eye Mullet, Aldrichetta forsteri (Valenciennes), in the Swan-Avon river system, Western Australia

1981 ◽  
Vol 32 (4) ◽  
pp. 605 ◽  
Author(s):  
CF Chubb ◽  
IC Potter ◽  
CJ Grant ◽  
RCJ Lenanton ◽  
J Wallace
Keyword(s):  
Growth Rates ◽  
River System ◽  
First Year ◽  
Length Frequency ◽  
Frequency Distributions ◽  
Using Data ◽  
The Times ◽  
First Year Of Life ◽  
Breeding Seasons ◽  
System 1

The age structure, growth rates and movements of M. cephalus and A forsteri in the Swan-Avon river system have been investigated using data obtained from beach seining and gill netting carried out between February 1977 and June 1980. Length-frequency data and scale readings show that the populations of both species consist predominantly of 0+ and 1 + fish. From the times when the smallest fry (20-30 mm) were present in the lower part of the river system, and from the condition of the gonads of older fish, the breeding seasons of the sea and yellow-eye mullets have been estimated as extending from March to September and from March to August respectively. The bimodality or polymodality exhibited by the length-frequency distributions for the 0 + year classes suggest that in both species groups of individuals spawn at slightly different times. The range of mean total lengths and weights of animals caught in May near the end of the first year of life was 178-222 mm and 64-119 gin M. cephalus and 136-154 mm and 19-30 g in A. forsteri, which shows that the growth of each of these two species of mullet is relatively very rapid in the Swan-Avon river system. 1 + and 2 + fish tend to leave the estuary for varying periods. Although 0+ fish of both species utilized the shallow banks of the estuary throughout the year. the sea mullet moved further upstream and were not as consistently abundant in the lower estuary. Since 0+ yellow-eye mullet 40-100 mm long were also abundant in marine coastal waters between January and May. and sea mullet of comparable age were rarely observed in these regions, it would appear that M. cephalus is the more estuarine-dependent of the two species. Commercial catches of M. cephalus were greater than those of A. forsteri. This feature can be related in part to the much faster growth rate of M. cephalus, which results in a larger proportion of its youngest year classes reaching the minimum legal size for capture prior to the time when they leave the estuary in large numbers.

scholarly journals Efficacy and safety of fenfluramine in the treatment of Dravet syndrome - literature review

2022 ◽  
Vol 12 (1) ◽  
pp. 106-116
Author(s):  
Martyna Stefaniak ◽  
Zofia Pietrzak ◽  
Piotr Dzikowski ◽  
Emilia Nowicka ◽  
Michał Obel ◽  
...  
Keyword(s):  
Oral Solution ◽  
Dravet Syndrome ◽  
First Year ◽  
Efficacy And Safety ◽  
Anti Epileptic Drug ◽  
Drug Regimens ◽  
Pulmonary Arterial ◽  
First Year Of Life ◽  
Patients Experience ◽  
Oral Doses

Dravet Syndrome is a severe, drug-resistant, and rare epileptiform disorder that is typically presented in the first year of life in an otherwise healthy child. It is characterized by prolonged seizures that are often resistant to current anti-epileptic drug regimens, which made them poorly controlled, and almost 50% of patients experience at least four tonic-clonic seizures per month. There are three new medicines: stiripentol, cannabidiol, and fenfluramine, with documented efficacy and safety as adjunctive therapies in pharmacoresistant Dravet syndrome treatment. This study aimed to assess the efficacy and safety of fenfluramine in the treatment of Dravet syndrome. Our study material consisted of publications, which were found in PubMed, Google Scholar, and Embase databases. In order to find the proper publications, the search has been conducted with the use of a combination of keywords like: “fenfluramine”, “Dravet syndrome”, “epilepsy treatment”, “Dravet syndrome pediatric patients”. The first step was to find proper publications from the last 10 years. The second step was to carry out an overview of the found publications. Results of mentioned studies proved that in Dravet syndrome, fenfluramine provided a significantly greater reduction in convulsive seizure frequency compared with placebo. No patient developed valvular heart disease or pulmonary arterial hypertension, the side effects that occurred during its use were mild and the drug was generally well-tolerated. The bioequivalence and tolerability of single oral doses of fenfluramine hydrochloride oral solution in the fed and fasted states support drug administration without regard to meals. Fenfluramine may represent a new important treatment option for Dravet syndrome.

Protein Intake in the First Year of Life: A Risk Factor for Later Obesity?

2005 ◽  
pp. 69-79 ◽  
Author(s):  
Berthold Koletzko ◽  
Ilse Broekaert ◽  
Hans Demmelmair ◽  
Jeanette Franke ◽  
Iris Hannibal ◽  
...  
Keyword(s):  
Risk Factor ◽  
Protein Intake ◽  
First Year ◽  
First Year Of Life

scholarly journals Unrelated Cord Blood Transplantation for Acute Leukemia Diagnosed in the First Year of Life: Outcomes and Risk Factor Analysis

2017 ◽  
Vol 23 (1) ◽  
pp. 96-102 ◽  
Author(s):  
Annalisa Ruggeri ◽  
Fernanda Volt ◽  
Franco Locatelli ◽  
Gerard Michel ◽  
Cristina Diaz de Heredia ◽  
...  
Keyword(s):  
Factor Analysis ◽  
Risk Factor ◽  
Acute Leukemia ◽  
Cord Blood ◽  
Cord Blood Transplantation ◽  
First Year ◽  
Life Outcomes ◽  
Blood Transplantation ◽  
Unrelated Cord Blood ◽  
First Year Of Life

Persistence of levels for risk factor variables during the first year of life: The Bogalusa Heart Study

1980 ◽  
Vol 33 (3) ◽  
pp. 157-167 ◽  
Author(s):  
Larry S. Webber ◽  
Sathanur R. Srinivasan ◽  
Antonie W. Voors ◽  
Gerald S. Berenson
Keyword(s):  
Risk Factor ◽  
First Year ◽  
Bogalusa Heart Study ◽  
Heart Study ◽  
First Year Of Life

scholarly journals Epilepsy combined with Wolf-Hirschhorn syndrome: a literature review and description of clinical cases

2019 ◽  
Vol 10 (4) ◽  
pp. 39-52
Author(s):  
M. B. Mironov ◽  
N. V. Chebanenko ◽  
S. O. Ayvazyan ◽  
S. A. Vladimirova ◽  
K. V. Osipova ◽  
...  
Keyword(s):  
Epileptiform Activity ◽  
Epileptic Seizures ◽  
Febrile Seizures ◽  
First Year ◽  
Eeg Activity ◽  
Epileptic Spasms ◽  
High Incidence ◽  
Clonic Seizures ◽  
First Year Of Life ◽  
Patients With Epilepsy

This article presents the anamnestic, clinical, electro-encephalographic and neuroimaging findings in 5 patients with epilepsy combined with Wolf-Hirschhorn syndrome (WHS). According to our data and the results of others, this combination has its specific characteristics. These include: a high incidence of epilepsy in patients with WHS (50-100% of cases), an early debut of seizures (mainly in the first year of life), fever-provoked seizures, and a variety of seizure types – focal paroxysms, bilateral tonic-clonic seizures, atypical febrile seizures, atypical absences and epileptic spasms. In addition, there may be frequent epileptic seizures tending toward status epilepticus, a slowing of the major EEG activity, a local EEG slowing (mainly in the posterior and bi-frontal areas), and regional / multiregional epileptiform activity. In more than 50% of cases, the diffuse peakwave activity is observed; the broad spectrum anti-epileptic drugs are highly efficient in 80% of cases. Based on this study, we propose recommendations for the management of patients with epilepsy combined with WHS.

scholarly journals Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death

2018 ◽  
Vol 115 (34) ◽  
pp. E8077-E8085 ◽  
Author(s):  
Kay L. Richards ◽  
Carol J. Milligan ◽  
Robert J. Richardson ◽  
Nikola Jancovski ◽  
Morten Grunnet ◽  
...  
Keyword(s):  
Disease Onset ◽  
Intractable Epilepsy ◽  
Premature Death ◽  
Epileptic Encephalopathy ◽  
Dravet Syndrome ◽  
First Year ◽  
Inhibitory Interneurons ◽  
Loss Of Function ◽  
Intracerebroventricular Infusion ◽  
First Year Of Life

Dravet syndrome is a catastrophic, pharmacoresistant epileptic encephalopathy. Disease onset occurs in the first year of life, followed by developmental delay with cognitive and behavioral dysfunction and substantially elevated risk of premature death. The majority of affected individuals harbor a loss-of-function mutation in one allele of SCN1A, which encodes the voltage-gated sodium channel NaV1.1. Brain NaV1.1 is primarily localized to fast-spiking inhibitory interneurons; thus the mechanism of epileptogenesis in Dravet syndrome is hypothesized to be reduced inhibitory neurotransmission leading to brain hyperexcitability. We show that selective activation of NaV1.1 by venom peptide Hm1a restores the function of inhibitory interneurons from Dravet syndrome mice without affecting the firing of excitatory neurons. Intracerebroventricular infusion of Hm1a rescues Dravet syndrome mice from seizures and premature death. This precision medicine approach, which specifically targets the molecular deficit in Dravet syndrome, presents an opportunity for treatment of this intractable epilepsy.

DOZ047.01: Risk factors for anastomotic strictures in the first year after esophageal atresia repair: data from a prospective multicentric cohort

2019 ◽  
Vol 32 (Supplement_1) ◽  
Author(s):  
M Aumar ◽  
V Rousseau ◽  
A Bonnard ◽  
R Sfeir ◽  
T Gelas ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Total Population ◽  
Type A ◽  
First Year ◽  
Multicentric Study ◽  
Recurrent Stricture ◽  
Independent Risk Factors ◽  
Type C ◽  
First Year Of Life

Abstract Objectives and study Anastomotic stricture (AS) is a frequent complication of the surgery for œsophageal atresia (OA) during the first year of life. The primary objective of this study was to evaluate the prevalence of AS before 1 year old in infants with type A and C OA who were operated on. Secondary objectives were to determine risk factors for AS in OA, for recurrent and refractory AS, and to establish if AS is associated with antireflux surgery. Methods A prospective national multicentric study was conducted including all infants born with OA between 2008 and 2015. Patients deceased before one year old, OA types B and E, and patients for whom data about AS were missing were excluded from the study. Data were collected at birth and at 12 months of age. Anastomosis under tension was defined by the surgeon and a delayed anastomosis was defined by an anastomosis after 15 days of life. Recurrent stricture was defined by the need of ≥3 dilations and refractory stricture was defined by the need of ≥5 dilations. Univariate and multivariate statistical analyses were conducted. Results Of the 1258 eligible patients (84%), 1054 were included in the study from 38 centers. The prevalence of AS in the first year of life was 23.3% [20.7–28.9]. Anastomosis under tension (AUT) and delayed anastomosis (DA) were found to be independent risk factors for AS (respectively 2.5 [1.73–3.45] and 3.7 [1.95–7.2] (OR [CL 95%])) in the total population. Neither sex, birth weight, prematurity, intrauterine growth retardation, associated malformations, type A OA, nor the type of surgical approach was a risk factor for AS. In type C OA, DA was the only risk factor for AS (OR: 3.1 [1.65–5.86]). The group with AS had 2.5-fold more fundoplication compared to the patients without AS (P = 0.0005) in the total population and in type C OA. AUT and DA were found to be independent risk factors for recurrent stricture (OR: 2.4 [1.47–3.9] and 4.7 [2.2–10.4], respectively) and DA was the only risk factor for refractory stricture (OR: 6.23 [2.4–16.2]). Conclusion Surgical factors at the time of first repair of OA are the only risk factors for AS.

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