Mechanisms of genetic epilepsies

e-Neuroforum ◽  
2013 ◽  
Vol 19 (2) ◽  
Author(s):  
U. Hedrich ◽  
S. Maljevic ◽  
H. Lerche
Keyword(s):  
Ion Channels ◽  
Review Article ◽  
Secondary Effects ◽  
Therapeutic Approaches ◽  
Structural Alterations ◽  
Neuronal Populations ◽  
Limited Success ◽  
Genetic Epilepsies ◽  
The Brain

AbstractEpilepsy is one of the most common neuro­logical disorders. As early as the time of Hip­pocrates (460-370 BC), it was reported on as the “holy disease”. Today it is known that an epileptic seizure is a consequence of synchro­nous discharges of neuronal populations in the brain, which abruptly and usually without an observable cause evoke involuntary be­havioural dysfunction or impaired conscious­ness. Epilepsies can have various causes and lead to extensive implications for the every­day life of affected patients. Up to 50% of all epilepsies are caused by genetic defects, in particular the so-called idiopathic epilep­sies, which occur without easily observable structural alterations in the brain. Genetical­ly caused dysfunctions of neuronal ion chan­nels play a central role in the formation of such epilepsies. The ion channels control the ion flux over the cell membrane of neurons and thus present the basis for the excitabili­ty of these neurons. Therefore, medications used in epilepsy treatment affect predomi­nantly ion channels. However, common an­ticonvulsants have limited success, not only because one third of epilepsy patients exhibit pharmacoresistance, but also because of the secondary effects which can dramatically af­fect their quality of life. Furthermore, current therapeutic approaches are mainly symp­tomatic and do not act on the epileptogenic mechanisms, which are still largely unknown. In this review article we will highlight the cur­rent main topics of our research on genetical­ly caused epilepsies, their pathomechanisms and therapeutic options.

scholarly journals Mechanismen genetischer Epilepsien

e-Neuroforum ◽  
2013 ◽  
Vol 19 (2) ◽  
Author(s):  
Ulrike Hedrich ◽  
Snezana Maljevic ◽  
Holger Lerche
Keyword(s):  
Ion Channels ◽  
Secondary Effects ◽  
Therapeutic Approaches ◽  
Neuronal Populations ◽  
The Everyday ◽  
The Common ◽  
Genetic Epilepsies ◽  
Idiopathic Epilepsies ◽  
The Brain

AbstractMechanisms of genetic epilepsies. Epilepsy is one of the most common neurological disorders. Already at the time of Hippocrates (460 - 370 BC) it was reported on as the “holy disease” (Fröscher 2004). Today it is known that an epileptic seizure is a consequence of synchronous discharges of neuronal populations in the brain, which abruptly and usually without an observ­able cause evoke involuntary behavioural dysfunction or impaired consciousness. Epilepsies can have various causes and lead to extensive implications for the everyday life of affected patients. Up to 50 % of all epilepsies are caused by genetic defects, in particular the so-called idiopathic epilepsies which occur without easily observable structural alterations of the brain. Genetically caused dysfunctions of neuronal ion channels play a central role in the formation of such epilepsies. The ion channels control the ion flux over the cell membrane of neurons and thus present the basis for the excitability of these neurons. Therefore, medications used for epilepsy treatment affect predominantly ion channels. However, the common anticonvulsants have limited success, not only because one third of epilepsy patients exhibits pharmacoresistance, but also because of the secondary effects which can dramatically affect their quality of life. Furthermore, current therapeutic approaches are mainly symptomatic and do not act on the epileptogenic mechanisms which are still largely unknown. In this review article we will highlight the current main topics of our research on genetically caused epilepsies, their pathomechanisms and therapeutic options.

Nanotechnology Approaches for Enhanced CNS Drug Delivery in the Management of Schizophrenia

2021 ◽  
Author(s):  
Rajalakshmi R ◽  
Krishnakumar N Menon ◽  
Sreeja C Nair
Keyword(s):  
Drug Delivery ◽  
Targeted Drug Delivery ◽  
Symptomatic Relief ◽  
Therapeutic Strategies ◽  
Review Article ◽  
Visual Hallucinations ◽  
Cns Drug Delivery ◽  
The Central Nervous System ◽  
The Brain

Schizophrenia is a neuropsychiatric disorder mainly affecting the central nervous system, presented with auditory and visual hallucinations, delusion and withdrawal from society. Abnormal dopamine levels mainly characterise the disease; various theories of neurotransmitters explain the pathophysiology of the disease. The current therapeutic approach deals with the systemic administration of drugs other than the enteral route, altering the neurotransmitter levels within the brain and providing symptomatic relief. Fluid biomarkers help in the early detection of the disease, which would improve the therapeutic efficacy. However, the major challenge faced in CNS drug delivery is the blood-brain barrier. Nanotherapeutic approaches may overcome these limitations, which will improve safety, efficacy, and targeted drug delivery. This review article addresses the main challenges faced in CNS drug delivery and the significance of current therapeutic strategies and nanotherapeutic approaches for a better understanding and enhanced drug delivery to the brain, which improve the quality of life of schizophrenia patients.

scholarly journals Recent Advances and Future Perspectives in the Development of Therapeutic Approaches for Neurodegenerative Diseases

2020 ◽  
Vol 10 (9) ◽  
pp. 633
Author(s):  
Melissa Bowerman
Keyword(s):  
Quality Of Life ◽  
Alzheimer’S Disease ◽  
Neurodegenerative Diseases ◽  
Huntington's Disease ◽  
Neuronal Cells ◽  
Future Perspectives ◽  
Therapeutic Approaches ◽  
Recent Advances ◽  
The Brain

Neurodegenerative diseases such as Alzheimer’s disease (AD), Parkinson’s disease (PD) and Huntington’s disease (HD), severely impact the function of neuronal cells in the brain and have devastating consequences on the quality of life of patients and their families [...]

scholarly journals Recent advances in understanding and treatment of Parkinson’s disease

2020 ◽  
Vol 9 ◽  
Author(s):  
Arjun Tarakad ◽  
Joseph Jankovic
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Protein Trafficking ◽  
Cellular Level ◽  
Multifactorial Disease ◽  
Therapeutic Approaches ◽  
Neuronal Populations ◽  
Disease Modifying ◽  
Non Motor Symptoms

Though primarily a sporadic condition, Parkinson’s disease is increasingly recognized to be a multifactorial disease with a strong genetic component. At a cellular level, disruptions of protein trafficking and recycling, particularly by misfolding, accumulation, and aggregation of α-synuclein, mitochondrial dysfunction, oxidative stress, and other etiopathogenic mechanisms, have been found to result in the death of vulnerable neuronal populations and appear to drive the neurodegeneration underlying Parkinson’s disease. The improved understanding of these mechanisms has led to the development of novel pathogenesis-targeted and potentially disease-modifying therapeutic approaches in Parkinson’s disease. Until these treatments are fully developed and approved, clinicians must rely on therapies designed to improve quality of life of patients by treating various motor and non-motor symptoms of the disease.

scholarly journals Impact of Mobile Phone Usage on Some Health Aspects of Children and Adolescents: Evidence Based Review Article

2019 ◽  
Vol 5 (4) ◽  
pp. 159-161
Author(s):  
Aqeel Abbas Noaman ◽  
Keyword(s):  
Mobile Phone ◽  
Mobile Phones ◽  
Review Article ◽  
Evidence Based ◽  
Radio Waves ◽  
Quality Of Sleep ◽  
Long Time ◽  
Mobile Phone Usage ◽  
The Brain

The Wi-Fi devices in mobile phones have a key role in exchanging information and data to show images, audios, videos, and to transfer applications from mobile emitting radio waves. These waves emitted by mobile devices are radiofrequency waves, where many kinds of researches in this field have shown that they negatively affect, especially when using the mobile phone for a long time during the day on the vision and the level of hearing in the young people, as well as the effect on the nervous system caused Headache and muscle aches, as well, it has also been derived from these researches and studies that these waves can cause more depression or psychological stress in children and young users of mobile phones. Moreover, it can cause damage to the brain cells and may have caused a brain tumor even though many studies have not proved it. Also, these studies, which were presented in this article, have concluded that the use of mobile phones, especially late at night, can negatively affect the quality of sleep.

scholarly journals Spina Bifida Myelomeningocele: The Brain and Neuropsychological Outcomes

2020 ◽  
Vol 9 (3) ◽  
pp. 1-14
Author(s):  
J.M. Fletcher ◽  
J. Juranek
Keyword(s):  
Spina Bifida ◽  
Early Interventions ◽  
Secondary Effects ◽  
Rule Based ◽  
Cognitive Phenotype ◽  
Brain Malformations ◽  
The Central Nervous System ◽  
Congenital Birth Defect ◽  
The Brain

This paper reviews the physical, neural, and cognitive phenotypes of spina bifida myelomeningocele (SBM), a non-lethal neural tube defect that is the most common congenital birth defect affecting the central nervous system. After reviewing the physical and neural phenotypes, we explain how these variations affect in a principled manner variation in the cognitive phenotype of SBM. The cognitive phenotype represents a modal profile with strengths in associative, rule-based learning and weaknesses in assembled, integrative processes. This phenotype is related to core deficits in timing, attention, and movement that arise early in development because of brain malformations involving the cerebellum, midbrain, and corpus callosum. The variability of outcomes in SBM is also related to the level of spinal cord lesion, secondary effects of hydrocephalus and its treatment, and the psychosocial environment. Early interventions and comprehensive interventions that take advantage of our understanding of the modal cognitive phenotype modal profile and the variations that occur are important in helping people with SBM maximize their cognitive development, adaptive functions, and quality of life.

scholarly journals Molecular Mechanisms of Cancer-Induced Sleep Disruption

2019 ◽  
Author(s):  
William H. Walker II ◽  
Jeremy C. Borniger
Keyword(s):  
Molecular Mechanisms ◽  
Systemic Disease ◽  
Sleep Disruption ◽  
Poor Sleep ◽  
Therapeutic Approaches ◽  
Treatment Regimens ◽  
Patients With Cancer ◽  
And Behavior ◽  
The Brain

Sleep is essential for health. Indeed, poor sleep is consistently linked to the development of systemic disease, including depression, metabolic syndrome, and cognitive impairments. Further evidence has accumulated suggesting a role for sleep in cancer initiation and progression (primarily breast cancer). Indeed, patients with cancer and cancer survivors frequently experience poor sleep, manifested as insomnia, circadian misalignment, hypersomnia, somnolence syndrome, hot flushes, and nightmares. These problems are associated with a reduction in patients’ quality of life and increased mortality. Due to the heterogeneity among cancers, treatment regimens, patient populations, and lifestyle factors, the etiology of cancer-induced sleep disruption is largely unknown. Here, we discuss recent advances in understanding the pathways linking cancer and the brain and how this leads to altered sleep patterns. We describe a conceptual framework where tumors disrupt normal homeostatic processes, resulting in aberrant changes in physiology and behavior that are detrimental to health. Finally, we discuss how this knowledge can be leveraged to develop novel therapeutic approaches for cancer-associated sleep disruption, with special emphasis on host-tumor interactions.

Lessons From the Neural Bases of Speech and Voice

2011 ◽  
Vol 21 (1) ◽  
pp. 5-14
Author(s):  
Christy L. Ludlow
Keyword(s):  
Brain Networks ◽  
Neural Substrates ◽  
Voice Behavior ◽  
Therapeutic Approaches ◽  
Neural Bases ◽  
Sound Foundation ◽  
The Brain ◽  
Normal Speech

The premise of this article is that increased understanding of the brain bases for normal speech and voice behavior will provide a sound foundation for developing therapeutic approaches to establish or re-establish these functions. The neural substrates involved in speech/voice behaviors, the types of muscle patterning for speech and voice, the brain networks involved and their regulation, and how they can be externally modulated for improving function will be addressed.

Classification of methods for generating pseudo-CT from MRI images for MRI-alone RT

2017 ◽  
Vol 1 (3) ◽  
pp. 54
Author(s):  
BOUKELLOUZ Wafa ◽  
MOUSSAOUI Abdelouahab
Keyword(s):  
Performance Metrics ◽  
Radiation Treatment ◽  
Hybrid Methods ◽  
Dose Calculation ◽  
Absolute Error ◽  
Ct Images ◽  
General Technique ◽  
Therapy Field ◽  
The Brain

Background: Since the last decades, research have been oriented towards an MRI-alone radiation treatment planning (RTP), where MRI is used as the primary modality for imaging, delineation and dose calculation by assigning to it the needed electron density (ED) information. The idea is to create a computed tomography (CT) image or so-called pseudo-CT from MRI data. In this paper, we review and classify methods for creating pseudo-CT images from MRI data. Each class of methods is explained and a group of works in the literature is presented in detail with statistical performance. We discuss the advantages, drawbacks and limitations of each class of methods. Methods: We classified most recent works in deriving a pseudo-CT from MR images into four classes: segmentation-based, intensity-based, atlas-based and hybrid methods. We based the classification on the general technique applied in the approach. Results: Most of research focused on the brain and the pelvis regions. The mean absolute error (MAE) ranged from 80 HU to 137 HU and from 36.4 HU to 74 HU for the brain and pelvis, respectively. In addition, an interest in the Dixon MR sequence is increasing since it has the advantage of producing multiple contrast images with a single acquisition. Conclusion: Radiation therapy field is emerging towards the generalization of MRI-only RT thanks to the advances in techniques for generation of pseudo-CT images. However, a benchmark is needed to set in common performance metrics to assess the quality of the generated pseudo-CT and judge on the efficiency of a certain method.

Particularities of tinnitus in children and adolescents

ORL ro ◽  
2016 ◽  
Vol 4 (1) ◽  
pp. 40-42
Author(s):  
Alexandra Boloș ◽  
Sebastian Cozma ◽  
Andreea Silvana Szalontay
Keyword(s):  
Quality Of Life ◽  
Young Adults ◽  
Children And Adolescents ◽  
Psychological Factors ◽  
Ambient Noise ◽  
Psychological Consequences ◽  
Therapeutic Approaches

Tinnitus is a common otologic symptom and probably the most troublesome. Tinnitus causes a number of physical and psychological consequences, that interfere with the quality of life of the patient. Many authors believe that the presence of tinnitus in children is a matter of lesser importance than in adults because it is met less frequently and would be a fleeting symptom, inoffensive for them (Graham, 1981). In addition, the prevalence of tinnitus during adolescence and even in young adults is increasing, possibly as a consequence of the increased ambient noise (Bulbul SF, Shargorodsky J). Various therapeutic approaches have generated different results, which led us to consider the role of psychological factors, hence the need to underline the particularities of this symptom in childhood.  

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