scholarly journals Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study

2021 ◽  
Vol 12 ◽  
Author(s):  
Pan Gong ◽  
Jiao Xue ◽  
Xianru Jiao ◽  
Yuehua Zhang ◽  
Zhixian Yang
Keyword(s):  
Cohort Study ◽  
Status Epilepticus ◽  
Genetic Disorders ◽  
Epileptic Encephalopathy ◽  
Related Factors ◽  
Pathogenic Variants ◽  
Age Related ◽  
Ohtahara Syndrome ◽  
Related Feature ◽  
The Mean

BackgroundRecently, the electroencephalogram pattern of electrical status epilepticus during sleep (ESES) had been reported in some genetic disorders, and most of them were noted with developmental and epileptic encephalopathy (DEE) or epileptic encephalopathy (EE). This study aimed to determine the genetic etiologies and clinical characteristics of ESES in DEE/EE.MethodsWe performed a cohort study in cases of DEE or EE with ESES. Tio-based genetic testing was performed in 74 cases and was analyzed to identify underlying variants.ResultsPathogenic or likely pathogenic variants were identified in 17/74 cases, including KCNQ2 (n = 6), KCNA2 (n = 5), GRIN2A (n = 3), SLC9A6 (n = 1), HIVEP2 (n = 1), and RARS2 (n = 1). Eleven were boys. The median age at seizure onset was 6 months. ESES occurred at the mean age of 2.0 ± 1.2 years, predominant in the Rolandic region in 14 years. Twelve of 17 cases had the first stage of different epilepsy preceding ESES: 2/12 were diagnosed as Ohtahara syndrome, 2/12 were diagnosed as infantile spasms, 3/12 were diagnosed as DEE, and 5/12 were diagnosed as EE without the epileptic syndrome.ConclusionMonogenic variants explained over 20% of DEE/EE with ESES. ESES could be an age-related feature in genetic disorders and occurred after the first stage of different epilepsy. Both age-related factors and genetic etiology were suggested to play a role in the occurrence of ESES in genetic DEE/EE.

RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

2021 ◽  
Author(s):  
J Fonseca ◽  
C Melo ◽  
C Ferreira ◽  
M Sampaio ◽  
R Sousa ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epileptic Encephalopathy ◽  
Btb Domain ◽  
Pathogenic Variants ◽  
Severe Intellectual Disability ◽  
Whole Exome

AbstractEarly infantile epileptic encephalopathy-64 (EIEE 64), also called RHOBTB2-related developmental and epileptic encephalopathy (DEE), is caused by heterozygous pathogenic variants (EIEE 64; MIM#618004) in the Rho-related BTB domain-containing protein 2 (RHOBTB2) gene. To date, only 13 cases with RHOBTB2-related DEE have been reported. We add to the literature the 14th case of EIEE 64, identified by whole exome sequencing, caused by a heterozygous pathogenic variant in RHOBTB2 (c.1531C > T), p.Arg511Trp. This additional case supports the main features of RHOBTB2-related DEE: infantile-onset seizures, severe intellectual disability, impaired motor functions, postnatal microcephaly, recurrent status epilepticus, and hemiparesis after seizures.

scholarly journals What influences diet quality in older people? A qualitative study among community-dwelling older adults from the Hertfordshire Cohort Study, UK

2017 ◽  
Vol 20 (15) ◽  
pp. 2685-2693 ◽  
Author(s):  
Ilse Bloom ◽  
Wendy Lawrence ◽  
Mary Barker ◽  
Janis Baird ◽  
Elaine Dennison ◽  
...  
Keyword(s):  
Older Adults ◽  
Cohort Study ◽  
Older People ◽  
Social Engagement ◽  
Community Dwelling ◽  
Related Factors ◽  
Age Related ◽  
Hertfordshire Cohort Study ◽  
The Uk ◽  
Community Dwelling Older Adults

AbstractObjectiveTo explore influences on diet in a group of community-dwelling older adults in the UK.DesignData were collected through focus group discussions with older people; discussions were audio-recorded, transcribed verbatim and transcripts analysed thematically.SettingHertfordshire, UK.SubjectsParticipants were sampled purposively from the Hertfordshire Cohort Study, focusing on those whose diets had been assessed at two time points: 1998–2001 and 2011.ResultsNinety-two adults participated (47 % women; 74–83 years) and eleven focus groups were held. A number of age-related factors were identified that were linked to food choices, including lifelong food experiences, retirement, bereavement and medical conditions, as well as environmental factors (such as transport). There appeared to be variability in how individuals responded to these influences, indicating that other underlying factors may mediate the effects of age-related factors on diet. Discussions about ‘keeping going’, being motivated to ‘not give up’, not wanting to be perceived as ‘old’, as well as examples of resilience and coping strategies, suggest the importance of mediating psychological factors. In addition, discussion about social activities and isolation, community spirit and loneliness, indicated the importance of social engagement as an influence on diet.ConclusionsInterventions to promote healthier diets in older age should take account of underlying psychological and social factors that influence diet, which may mediate the effects of age-related factors.

scholarly journals Epileptic Encephalopathies: An Overview

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Sonia Khan ◽  
Raidah Al Baradie
Keyword(s):  
Slow Wave Sleep ◽  
Epileptic Encephalopathy ◽  
Dravet Syndrome ◽  
Management Options ◽  
Epileptic Encephalopathies ◽  
Age Related ◽  
Ohtahara Syndrome ◽  
Cerebral Dysfunction ◽  
Epileptic Syndromes

Epileptic encephalopathies are an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized. These syndromes include early myoclonic encephalopathy and Ohtahara syndrome in the neonatal period, West syndrome and Dravet syndrome in infancy, myoclonic status in nonprogressive encephalopathies, and Lennox-Gastaut syndrome, Landau-Kleffner syndrome, and epilepsy with continuous spike waves during slow wave sleep in childhood and adolescences. Other epileptic syndromes such as migrating partial seizures in infancy and severe epilepsy with multiple independent spike foci may be reasonably added. In this paper, we provide an overview of epileptic encephalopathies including clinical neurophysiological features, cognitive deterioration, and management options especially that these conditions are generally refractory to standard antiepileptic drugs.

scholarly journals The Age of Natural Menopause and Related Factors among the Population of the Tabari Cohort.

2019 ◽  
Author(s):  
Marzieh Zamaniyan ◽  
Mahmood Moosazadeh ◽  
Sepideh Peyvandi ◽  
Kaveh Jaefari ◽  
Reza Goudarzi ◽  
...  
Keyword(s):  
Cohort Study ◽  
Population Based ◽  
Breastfeeding Duration ◽  
Chi Square ◽  
Related Factors ◽  
Natural Menopause ◽  
Blood Samples ◽  
Related Data ◽  
Confounding Variables ◽  
The Mean

Abstract Background: Age of menopause is affected by several factors. In this study we aimed to identify the age of natural menopause and its related factors in a large-scaled population-based cohort study in Iran. Methods: In this study, we utilized a subset of data collected in enrollment phase of Tabari cohort study (TCS). Reproductive history and other related data were collected using structural questionnaire. Blood samples were collected form all participants. We analyzed data using chi-square, independent t-test and ANOVA as well as multivariate linear regression model. Results: Among all participants of Tabari cohort, 2753 were menopause women. The mean age of natural and induced menopause was 49.2±4.7 and 43.2 ± 6.4 respectively (P = 0.001). Our finding showed that number of pregnancy, breastfeeding duration, education, residency, thyroid disease and body mass index affect age of menopause. After adjustment for confounding variables, number of pregnancy remained significantly associated with late menopause. Conclusion: Results of the present study showed that number of pregnancy was positively associated with menopausal age.

Electrical Status Epilepticus during Sleep and Evaluating the Electroencephalogram

2021 ◽  
Author(s):  
Michael Drees ◽  
Neil Kulkarni ◽  
Jorge Vidaurre
Keyword(s):  
Status Epilepticus ◽  
Clinical Manifestations ◽  
Epileptic Encephalopathy ◽  
Brain Lesions ◽  
Genetic Mutations ◽  
Immunological Markers ◽  
Age Related ◽  
Slow Sleep ◽  
Continuous Spikes And Waves ◽  
Structural Brain

AbstractElectrical status epilepticus during sleep (ESES) is an age-related, self-limited epileptic encephalopathy characterized by heterogeneous clinical manifestations and a specific electroencephalographic pattern of continuous spikes and waves during slow sleep. The etiology of ESES is not completely clear, although structural brain lesions, abnormal immunological markers, and genetic mutations have been associated with the syndrome. ESES was first described in 1971 and since then, the diagnostic criteria have changed multiple times. Additionally, inconsistency between authors in how to record and evaluate the electroencephalogram also leads to variability between studies. These inconsistencies hamper objectivity, comparison, and generalization. Because of this, one of the first priorities of physicians treating this condition should be defining the parameters of this disease so that cooperative building can occur.

scholarly journals Case Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy

2021 ◽  
Vol 12 ◽  
Author(s):  
Pan Gong ◽  
Xianru Jiao ◽  
Dan Yu ◽  
Zhixian Yang
Keyword(s):  
De Novo ◽  
Gene Mutations ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
Loss Of Function ◽  
Gain Of Function ◽  
Dysmorphic Features ◽  
Pathogenic Variants ◽  
Ohtahara Syndrome ◽  
Whole Exome

Objective:KCNT2 gene mutations had been described to cause developmental and epileptic encephalopathies (DEEs). In this study, we presented the detailed clinical features and genetic analysis of two unrelated patients carrying two de novo variants in KCNT2 and reviewed eight different cases available in publications.Methods: Likely pathogenic variants were identified by whole exome sequencing; clinical data of the patients were retrospectively collected and analyzed.Results: Our two unrelated patients were diagnosed with Ohtahara syndrome followed by infantile spasms (IS) and possibly the epilepsy of infancy with migrating focal seizures (EIMFS), respectively. They both manifested dysmorphic features with hirsute arms, thick hair, prominent eyebrows, long and thick eyelashes, a broad nasal tip, and short and smooth philtrum. In the eight patients reported previously, two was diagnosed with IS carrying a ‘change-of-function' mutation and a gain-of-function mutation, respectively, two with EIMFS-like carrying a gain-of-function mutation and a loss-of-function mutation, respectively, one with EIMFS carrying a loss-of-function mutation, three with DEE without functional analysis. Among them, two patients with gain-of-function mutations both exhibited dysmorphic features and presented epilepsy phenotype, which was similar to our patients.Conclusion: Overall, the most common phenotypes associated with KCNT2 mutation were IS and EIMFS. Epilepsy phenotype associated with gain- and loss-of-function mutations could overlap. Additional KCNT2 cases will help to make genotype-phenotype correlations clearer.

Biological Bases of Symptomatic Generalized Epilepsies in Children

2017 ◽  
Author(s):  
Dragos A. Nita ◽  
Miguel A. Cortez ◽  
Jose Luis Perez Velazquez ◽  
O. Carter Snead
Keyword(s):  
Mental Retardation ◽  
Intractable Epilepsy ◽  
Epileptic Encephalopathy ◽  
Global Developmental Delay ◽  
Epilepsy Syndrome ◽  
Mortality And Morbidity ◽  
Age Related ◽  
Ohtahara Syndrome ◽  
Brain Involvement ◽  
Myoclonic Encephalopathy

Symptomatic generalized epilepsies represent a group of challenging epilepsy syndromes, most often seen in children, which share the hallmark of a triad encompassing multiple seizure types, electroencephalographical (EEG) evidence of diffuse brain involvement, and dysfunction in the intellectual domain (global developmental delay or mental retardation). SGEs include the early myoclonic encephalopathy, early infantile epileptic encephalopathy (Ohtahara syndrome), West syndrome, epilepsy with myoclonic-astatic seizures, epilepsy with myoclonic absence, Lennox-Gastaut syndrome, and the progressive myoclonic epilepsies. SGEs may arise from various genetic, developmental, or acquired brain pathologies and also can be associated with other cerebral or systemic defects and thus being part of a broader epilepsy syndrome phenotype. SGEs are associated with significant mortality and morbidity and most patients with SGE grow up to have intractable epilepsy, mental retardation, and depend on parents and institutions for the activities of the daily living. The mechanisms of SGE are numerous and heterogeneous and the EEG findings usually reflect the age-related changes as the brain matures.

scholarly journals Epileptic Spasms-West syndrome secondary to Dravet syndrome due to SCN gene mutation from India

2021 ◽  
Vol 36 ◽  
pp. 49-53
Author(s):  
Vykuntaraju K. Gowda ◽  
Hemadri Vegda ◽  
Raghavendraswami Amoghimath ◽  
Manojna Battina ◽  
Sanjay K. Shivappa ◽  
...  
Keyword(s):  
Tertiary Care ◽  
Retrospective Chart Review ◽  
Epileptic Encephalopathy ◽  
West Syndrome ◽  
Dravet Syndrome ◽  
Epilepsy Syndrome ◽  
Routine Testing ◽  
Pathogenic Variants ◽  
Epileptic Spasms ◽  
The Mean

Objectives: West syndrome (WS) is a triad of epileptic spasms, developmental delay/regression, and hypsarrhythmia. SCN related epileptic encephalopathy is a rare epilepsy syndrome characterized by an early-onset, severe, and epileptic encephalopathy. The causes of WS are multiple and diverse ranging from genetic to structural, metabolic, and unknown causes. The objectives of the study were to report SCN related epileptic encephalopathies with epileptic spasms. Materials and Methods: This is retrospective chart review of children presenting with epileptic spasms secondary to SCN gene variants from January 2015 to March 2020 in a tertiary care referral center. Results: Out of 15 children, ten were boys. The mean age of presentation was 5 months. Thirteen children had preceded seizures before epileptic spasms in the 1st year of life, two children presented initially with epileptic spasms. No neuro-deficits were noted in all the children. In all the cases electroencephalogram was suggestive of hypsarrhythmia. Routine testing, neuroimaging, and metabolic tests were normal in all the cases. Various pathogenic variants seen in next-generation sequencing were SCN1A in 11, SCN1B and SCN2A in two children each. Three children responded for vigabatrin and five children responded for steroids but all of them had relapse and were refractory to other antiepileptic drugs. Conclusion: SCN related epileptic encephalopathy should be considered in the differential diagnosis of epileptic spasms. These infants present earlier compare to classical Dravet syndrome children.

Age related volume of cadaver-prostates in Bangladesh

1970 ◽  
Vol 4 (2) ◽  
pp. 74-77
Author(s):  
Rukshana Ahmed ◽  
Shamim Ara
Keyword(s):  
Prostate Gland ◽  
Age Groups ◽  
Clinical Settings ◽  
Cross Sectional ◽  
Medical College ◽  
Age Related ◽  
Group A ◽  
Key Words Prostate ◽  
The Mean ◽  
Group B

Pathological changes in the prostate gland occur commonly with advancing age including inflammation, atrophy, hyperplasia and carcinoma and a change in volume is also evident. Estimation of volume of prostate may be useful in a variety of clinical settings. A cross-sectional descriptive study was designed to see the changes in volume of the prostate with advancing age and done in the Department of Anatomy, Dhaka Medical College, Dhaka from August 2006 to June 2007. The study was performed on 70 post-mortem human prostates collected from the unclaimed dead bodies that were under examination in the Department of Forensic Medicine, Dhaka Medical College, Dhaka. The samples were divided into three age groups; group A (10-20 years), group B (21-40 years) and group C (41-70 years). Volume of the sample was measured by using the ellipsoid formula. The mean ± SD volume of prostate was 7.68 ± 3.64 cm3 in group A, 10.61 ± 3.99 cm3 in group B and 15.40 ± 6.31 cm3 in group C. Mean difference in volume between group A and group C, group B and group C were statistically significant (p<0.001). Statistically significant positive correlation was found between age and volume of prostate (r = + 0.579, p < 0.001). Key Words: Prostate; volume; Bangladeshi. DOI: 10.3329/imcj.v4i2.6501Ibrahim Med. Coll. J. 2010; 4(2): 74-77

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