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Seminars in Pediatric Neurology

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https://www.readbyqxmd.com/read/28284396/pyridoxal-phosphate-supplementation-in-neuropediatric-disorders
#1
Elisenda Cortès-Saladelafont, Marta Molero-Luis, Hsjd Working Group, Rafael Artuch, Àngels García-Cazorla
Pyridoxal phosphate (PLP) is the active form of vitamin B6 and a cofactor in many enzyme reactions including neurotransmitter metabolism. PLP metabolism disturbances may mostly lead to refractory seizures. In this report, we review the main pathophysiological factors related with PLP deficiency and our experience in PLP treatment in pediatric patients with low-normal cerebrospinal fluid PLP values who presented epilepsy. Only one case had a definite diagnosis (Phelan-McDermid syndrome). The results of extensive metabolic workups and targeted genetic studies were normal for all patients...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284395/treatable-inborn-errors-of-metabolism-due-to-membrane-vitamin-transporters-deficiency
#2
Juan Darío Ortigoza Escobar, Belén Pérez Dueñas
B vitamins act as cofactors for strategic metabolic processes. The SLC19 gene family of solute carriers has a significant structural similarity, transporting substrates with different structure and ionic charge. Three proteins of this family are expressed ubiquitously and mediate the transport of 2 important water-soluble vitamins, folate, and thiamine. SLC19A1 transports folate and SLC19A2 and SLC19A3 transport thiamine. PCFT and FOLR1 ensure intestinal absorption and transport of folate through the blood-brain barrier and SLC19A25 transports thiamine into the mitochondria...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284394/impaired-neurotransmission-in-early-treated-phenylketonuria-patients
#3
María Julieta González, Rosa Gassió, Rafael Artuch, Jaume Campistol
Cerebral neurotransmitter (NT) deficiency has been suggested as a contributing factor in the pathophysiology of brain dysfunction in phenylketonuria (PKU), even in early-treated phenylketonuric patients. The study aimed to review dopamine and serotonin status in PKU, and the effect of the impaired neurotransmission. Several mechanisms are involved in the pathophysiology of PKU, primarily characterized by impaired dopamine and serotonin synthesis. These deficits are related to executive dysfunctions and social-emotional problems, respectively, in early treated patients...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284393/epilepsy-in-inborn-errors-of-metabolism-with-therapeutic-options
#4
Jaume Campistol
Inborn errors of metabolism (IEM) are rare conditions that represent more than 1000 diseases, with a global prevalence of approximately 1:2000 individuals. Approximately, 40%-60% of IEM may present with epilepsy as one of the main neurologic signs. Epilepsy in IEM may appear at any age (fetal, newborn, infant, adolescent, or even adult). Different pathophysiological mechanisms may be responsible for the clinical phenotype, such as disturbances in energy metabolism (mitochondrial and fatty oxidation disorders, GLUT-1, and cerebral creatine deficiency), accumulation of complex molecules (lysosomal storage disorders), toxic mechanisms (organic acidurias and urea cycle disorders), or impairment of neurotransmission...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284392/diseases-of-the-synaptic-vesicle-a-potential-new-group-of-neurometabolic-disorders-affecting-neurotransmission
#5
E Cortès-Saladelafont, A Tristán-Noguero, R Artuch, X Altafaj, A Bayès, A García-Cazorla
The general concept of inborn error of metabolism is currently evolving into the interface between classical biochemistry and cellular biology. Basic neuroscience is providing increasing knowledge about the mechanisms of neurotransmission and novel related disorders are being described. There is a necessity of updating the classic concept of "inborn error of neurotransmitters (NT)" that considers mainly defects of synthesis and catabolism and transport of low weight NT molecules. Monogenic defects of the synaptic vesicle (SV), and especially those affecting the SV cycle are a potential new group of NT disorders since they end up in abnormal NT turnover and release...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284391/neuromuscular-manifestations-in-mitochondrial-diseases-in-children
#6
Andrés Nascimento, Carlos Ortez, Cristina Jou, Mar O'Callaghan, Federico Ramos, Àngels Garcia-Cazorla
Mitochondrial diseases exhibit significant clinical and genetic heterogeneity. Mitochondria are highly dynamic organelles that are the major contributor of adenosine triphosphate, through oxidative phosphorylation. These disorders may be developed at any age, with isolated or multiple system involvement, and in any pattern of inheritance. Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle and peripheral nerves, causing exercise intolerance, cramps, recurrent myoglobinuria, or fixed weakness, which often affects extraocular muscles and results in droopy eyelids (ptosis), progressive external ophthalmoplegia, peripheral ataxia, and peripheral polyneuropathy...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284390/creatine-defects-and-central-nervous-system
#7
Carmen Fons, Jaume Campistol
Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by intellectual disability, language delay, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain. Synthesis defects are treatable, therefore an early diagnosis and treatment is essential. The aim of this article is to review the Cr metabolism and function in the central nervous system. We describe the optimal diagnostic protocol in Cr deficiency syndromes based on biochemical methods, neuroradiological (1H-MRS), and molecular analysis...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284389/biochemical-analyses-of-cerebrospinal-fluid-for-the-diagnosis-of-neurometabolic-conditions-what-can-we-expect
#8
Marta Batllori, Marta Molero-Luis, Mercedes Casado, Cristina Sierra, Rafael Artuch, Aida Ormazabal
In this article, we review the state-of-the-art analysis of different biomarkers in the cerebrospinal fluid for the diagnosis of genetically conditioned, rare, neurometabolic diseases, including glucose transport defects, neurotransmitter (dopamine, serotonin, and gamma-aminobutyric acid) and pterin deficiencies, and vitamin defects (folate, vitamin B6, and thiamine) that affect the brain. The analysis of several key metabolites are detailed, which thus highlights the preanalytical and analytical factors that should be cautiously controlled to avoid misdiagnosis; moreover, these factors may facilitate an adequate interpretation of the biochemical profiles in the context of severe neuropediatric disorders...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284388/neonatal-screening-for-inherited-metabolic-diseases-in-2016
#9
Judit Garcia Villoria, Sonia Pajares, Rosa María López, José Luis Marin, Antonia Ribes
The scope of newborn screening (NBS) programs is continuously expanding. NBS programs are secondary prevention interventions widely recognized internationally in the "field of Public Health." These interventions are aimed at early detection of asymptomatic children affected by certain diseases, with the objective to establish a definitive diagnosis and apply the proper treatment to prevent further complications and sequelae and ensure a better quality of life. The most significant event in the history of neonatal screening was the discovery of phenylketonuria in 1934...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284387/introduction
#10
EDITORIAL
Jaume Campistol
No abstract text is available yet for this article.
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27989333/inherited-pain-syndromes-and-ion-channels
#11
REVIEW
Francis J DiMario
Individuals rely on the perception of pain to avoid injury, to signal disease, and to warn about tissue inflammation and damage. However, the inheritance of inappropriate, extreme, or inadequate pain production is a source of significant human suffering. Substantial progress has been made in our understanding of the genetics and pathophysiology of pain through the study of individuals and families with several specific inherited pain syndromes. These studies have led to the discovery of a number of gene mutations associated with specific ion channel disturbances that produce familial inherited pain sensitivity and insensitivity syndromes...
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27989332/neuropathic-and-myopathic-pain
#12
REVIEW
Anthony C Rodrigues, Peter B Kang
The evaluation and management of childhood pain syndromes of neuromuscular origin have distinct challenges, as the patterns of disease presentation and the ability of a child to describe symptoms may differ from that of an adult. Advances in scientific and clinical knowledge are leading to significant progress in the care of affected children. The genetic origins of Fabry disease and the inherited form of erythromelalgia are better understood. The increasing interest in neuroimmunology among pediatric neurologists has led to more sophisticated diagnostic and therapeutic approaches...
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27989331/juvenile-fibromyalgia-a-primary-pain-or-pain-processing-disorder
#13
REVIEW
Lawrence Zemel, Peter R Blier
Juvenile fibromyalgia (JFM), a chronic disorder of widespread musculoskeletal pain in combination with autonomic, sensory, and cognitive dysfunction, is responsible for considerable morbidity and impaired quality of life in affected patients and their families. Historically, fibromyalgia has been incorrectly characterized as a psychosomatic or psychogenic disorder, but new understanding of the science of pain has demonstrated unambiguously that it is an organic disorder of the pain processing system itself...
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27989330/pain-amplification-syndrome-a-biopsychosocial-approach
#14
REVIEW
Lisa B Namerow, Emily C Kutner, Emily C Wakefield, Barbara R Rzepski, Robert A Sahl
Pediatric neurologists frequently encounter patients who present with significant musculoskeletal pain that cannot be attributed to a specific injury or illness, which can often be defined as pain amplification syndrome (PAS). PAS in children and adolescents is the result of a heightened pain sensitivity pathway, which is intensified by significant biological, psychological, and social contributors. Appropriate assessment and multimodal intervention of PAS are crucial to treatment success, including neurology and behavioral health collaborative treatment plans to restore patient function and reduce pain perception...
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27989329/nonpharmacologic-treatment-of-pain
#15
REVIEW
Anna Monica Agoston, Christine B Sieberg
Pain is a complex biopsychosocial experience that is influenced by neurological processes and psychosocial factors. Systematic reviews and meta-analyses of randomized controlled trials of psychological interventions have demonstrated evidence for psychological approaches in treating procedural pain and multiple types of chronic pain, including headaches, abdominal pain, and musculoskeletal pain. This article is directed toward clinicians and would provide an overview of cognitive-behavioral therapy, including specific cognitive-behavioral techniques for pediatric pain...
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27989328/pharmacologic-treatment-of-pain
#16
REVIEW
Eapen Mathew, Eugene Kim, William Zempsky
Adolescents and children are frequently affected by chronic pain conditions that can lead to disability and distress. The best approach to evaluation and treatment of these conditions involves use of the biopsychosocial model, which includes use of medication management. Chronic pain conditions are treated pharmacologically with a number of different medication classes via several routes of administration as drug delivery systems have progressed. These include anti-inflammatory drugs, muscle relaxants, antiepileptic medicines, antidepressants, opioids, and local anesthetics...
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27989327/pathogenesis-of-pain
#17
REVIEW
Pradeep Dinakar, Alexandra Marion Stillman
The pathogenesis of pain sensation includes mechanisms that result in acute or chronic pain. Pain itself is described as an unpleasant sensory and emotional experience beginning with a peripheral stimulus that undergoes a physiological process ultimately resulting in the sensation of pain. Biologists recognize pain to be a common sign of potential tissue damage. Hence, pain sensation is protective in function. However, pathologic states of pain exist secondary to disruption of the nociceptive process both peripherally and centrally or secondary to psychological conditions...
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27989326/pediatric-pain-measurement-assessment-and-evaluation
#18
REVIEW
Renee C B Manworren, Jennifer Stinson
Assessment provides the foundation for diagnosis, selection of treatments, and evaluation of treatment effectiveness for pediatric patients with acute, recurrent, and chronic pain. Extensive research has resulted in the availability of a number of valid, reliable, and recommended tools for assessing children's pain. Yet, evidence suggests children's pain is still not optimally measured or treated. In this article, we provide an overview of pain evaluation for premature neonates to adolescents. The difference between pain assessment and measurement is highlighted; and the key steps to follow are identified...
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27989325/introduction
#19
EDITORIAL
Francis J DiMario
No abstract text is available yet for this article.
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27544475/current-and-emerging-therapies-of-severe-epileptic-encephalopathies
#20
Abeer J Hani, Mohamad A Mikati
In this article, we review the treatment options for the pediatric epileptic encephalopathies and provide an update on the new and emerging therapies targeted at the underlying pathophysiology of many of these syndromes. We illustrate how the identification of the specific genetic and autoimmune causes has made possible the evaluation and development of novel, better targeted therapies, as and at times, avoidance of potentially offending agents.
May 2016: Seminars in Pediatric Neurology
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