Neurological Complications of Endocrine Disease
The endocrine system is a complex group of organs and glands that relates to multiple other organs and systems in the body with the ultimate goal of maintaining homeostasis. This complex network functions through hormones excreted by several glands and released in the blood, targeting different body tissues and modulating their function. Any primary disorders affecting the endocrine glands and altering the amount of hormones synthesized and released will lead to disruption in the functions of multiple organs. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - December 26, 2016 Category: Neurology Authors: Karen S. Carvalho, Tal Grunwald, Francesco De Luca Source Type: research
Neurological Complications of Endocrine Disorders
The Endocrine system is a complex group of organs and glands that relates to multiple other organs and systems in the body with the ultimate goal of maintaining homeostasis. This complex network functions through hormones excreted by several glands and released in the blood, ultimately targeting different body tissues and modulating their function. Any primary disorders affecting the endocrine glands and altering the amount of hormones synthesized and released will lead to disruption in the functions of multiple organs. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - December 25, 2016 Category: Neurology Authors: Karen S. Carvalho, Tal Grunwald, Francesco De Luca Source Type: research
Neurological Complications of Rheumatic Disease
Rheumatic disease represents a broad spectrum of systemic conditions manifested by multisystem involvement and mediated by autoimmunity and inflammation. Their neurological complications may occur at any point in the disease process and are diagnostically challenging. For years central nervous system (CNS) was considered as a system uniquely protected from effects of the immune system because of the blood-brain barrier. Indeed, under physiological conditions immune access to CNS is tightly regulated. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - December 23, 2016 Category: Neurology Authors: Svetlana Lvovich, Donald P. Goldsmith Source Type: research
Neurological Complications of Childhood Cancer
This article focuses primarily on the indirect effects of pediatric cancers and their treatment on the central and peripheral nervous system. Chemotherapy, radiation, and stem cell transplantation cause an immune-compromised state and place the patient at risk of infection, the leading cause of mortality in pediatric cancer. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - December 22, 2016 Category: Neurology Authors: Lauren Weaver, Ayman Samkari Source Type: research
Neurological Complications of Renal Disease
Neurological manifestations related to electrolyte disorders, drug toxicity, and uremia are common in chronic kidney disease (CKD). Seizures and coma were frequent complications of acute uremia, whereas peripheral neuropathy and encephalopathy, observed in progressive uremia, were terminal events. Failure to excrete metabolic products causes an accumulation of these products and can lead to severe intoxication. Clinically, the signs and symptoms of uremia can vary widely, depending on the biological characteristics of the patient, the specific type of renal disease, and the time of the uremic intoxication. (Source: Seminar...
Source: Seminars in Pediatric Neurology - December 22, 2016 Category: Neurology Authors: H. Jorge Baluarte Source Type: research
Neurologic Complications in Childhood Cancer
Though the treatment of pediatric cancers has come a long way, acute and chronic effects of cancer are still impacting the life of many children. These effects may be caused not only by the malignancy itself but also by the interventions employed for the purpose of treatment. This review focuses primarily on the indirect effects of pediatric cancers and their treatment on the central and peripheral nervous system. Chemotherapy, radiation, and stem cell transplantation cause an immune compromised state and place the patient at risk of infection, the leading cause of mortality in pediatric cancer. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - December 22, 2016 Category: Neurology Authors: Lauren Weaver, Ayman Samkari Source Type: research
Neurological Manifestations of Rheumatic disorders
Rheumatologic disorders represent a broad spectrum of systemic conditions manifested by multisystem involvement and mediated by autoimmunity and inflammation. Neurologic manifestations of these disorders may occur at any point in the disease process and are diagnostically challenging. For years CNS was considered a system uniquely protected from effects of the immune system because of the blood brain barrier (BBB). Indeed, under physiologic conditions immune access to CNS is tightly regulated. Over the past decade, new scientific discoveries highlighted pathways by which immune and neurologic systems interact, including va...
Source: Seminars in Pediatric Neurology - December 22, 2016 Category: Neurology Authors: Svetlana Lvovich, Donald P. Goldsmith Source Type: research
Creatine Defects and Central Nervous System
We describe the optimal diagnostic protocol in creatine deficiency syndromes based on biochemical methods, neuroradiological (1H-MRS) and molecular analysis. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - November 16, 2016 Category: Neurology Authors: Carmen Fons, Jaume Campistol Source Type: research
Neonatal Screening for Inherited Metabolic Diseases in 2016
The scope of newborn screening (NBS) progrmas is continuously expanding. NBS programs are secondary prevention interventions widely recognized internationally in the “field of Public Health. These interventions 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. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - November 15, 2016 Category: Neurology Authors: Judit Garcia Villoria, Sonia Pajares, Rosa Lopez, Jos é Luis Marin, Antonia Ribes Source Type: research
Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission
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 t...
Source: Seminars in Pediatric Neurology - November 14, 2016 Category: Neurology Authors: E. Cort ès-Saladelafont, A. Tristán-Noguero, R. Artuch, X. Altafaj, A. Bayès, A. García-Cazorla Source Type: research
“Diseases of the synaptic vesicle: a potential new group of neurometabolic disorders affecting neurotransmission”
The general concept of inborn error of metabolism is currently evolving and travels to 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” that considers mainly defects of synthesis, catabolism and transport of low weight neurotransmitter (NT) molecules. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - November 14, 2016 Category: Neurology Authors: EMD. Cort ès-Saladelafont, A. Tristán-Noguero, R. Artuch, X. Altafaj, A. Bayès, A. García-Cazorla Source Type: research
Pyridoxal Phosphate Supplementation in Neuropediatric Disorders
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 CSF PLP values who presented mainly 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. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - November 9, 2016 Category: Neurology Authors: Elisenda Cort ès-Saladelafont, Marta Molero-Luis, HSJD Working Group, Rafael Artuch, Àngels García-Cazorla Source Type: research
Impaired neurotransmission in early-treated phenylketonuria patients
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. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - November 8, 2016 Category: Neurology Authors: Mar ía Julieta González, Rosa Gassió, Rafael Artuch, Jaume Campistol Source Type: research
Biochemical analyses of cerebrospinal fluid for the diagnosis of neurometabolic conditions. What can we expect?
In this article, we review the state of the art of the analysis of different biomarkers in cerebrospinal fluid for the diagnosis of genetically conditioned, rare, neurometabolic diseases, including glucose transport defects, neurotransmitter (dopamine, serotonin and GABA) 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 pre-analytical and analytical factors that should be cautiously controlled to avoid misdiagnosis; moreover, these factors may facilitate an adequate interpretation of the bioc...
Source: Seminars in Pediatric Neurology - November 8, 2016 Category: Neurology Authors: Marta Batllori, Marta Molero-Luis, Mercedes Casado, Cristina Sierra, Rafael Artuch, Aida Ormazabal Source Type: research
Neuromuscular Manifestations in Mitochondrial Diseases in Children
Mitochondrial diseases (MiDs) exhibit significant clinical and genetic heterogeneity. Mitochondria are highly dynamic organelles that are the major contributor of ATP, via oxidative phosphorylation (OXPHOS).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 extra ocular muscles and results in droopy eyelids (pt...
Source: Seminars in Pediatric Neurology - November 8, 2016 Category: Neurology Authors: Andr és Nascimento, Carlos Ortez, Cristina Jou, Mar O′Callaghan, Federico Ramos, Àngels Garcia-Cazorla Source Type: research
