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Seminars in Pediatric Neurology

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https://www.readbyqxmd.com/read/28941532/optic-pathway-gliomas-secondary-to-neurofibromatosis-type-1
#1
Shannon Jeanine Beres, Robert A Avery
Children with neurofibromatosis type 1 frequently manifest optic pathway gliomas-low-grade gliomas intrinsic to the visual pathway. This review describes the molecular and genetic mechanisms driving optic pathway gliomas as well as the clinical symptoms of this relatively common genetic condition. Recommendations for clinical management and descriptions of the newest imaging techniques are discussed.
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28941531/disentangling-how-the-brain-is-wired-in-cortical-cerebral-visual-impairment
#2
Lotfi B Merabet, D Luisa Mayer, Corinna M Bauer, Darick Wright, Barry S Kran
Cortical (cerebral) visual impairment (CVI) results from perinatal injury to visual processing structures and pathways of the brain and is the most common cause of severe visual impairment or blindness in children in developed countries. Children with CVI display a wide range of visual deficits including decreased visual acuity, impaired visual field function, as well as impairments in higher-order visual processing and attention. Together, these visual impairments can dramatically influence a child's development and well-being...
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28941530/introduction
#3
EDITORIAL
Gena Heidary
No abstract text is available yet for this article.
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28941529/emerging-applications-of-optical-coherence-tomography-in-pediatric-optic-neuropathies
#4
Sidney M Gospe, M Tariq Bhatti, Mays A El-Dairi
Limited cooperation and attention span often lead to poorly reliable assessments of visual acuity and visual fields in children, making diagnosis and monitoring of pediatric optic neuropathies challenging. As a noninvasive imaging modality, optical coherence tomography (OCT) could offer particular utility in this patient population. OCT provides high-resolution characterization of the optic nerve head, peripapillary retinal nerve fiber layer, and cellular layers of the macula, all of which can be used to assess the severity of optic nerve disease qualitatively and quantitatively...
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28941528/dominant-optic-atrophy-and-leber-s-hereditary-optic-neuropathy-update-on-clinical-features-and-current-therapeutic-approaches
#5
Bo Young Chun, Joseph F Rizzo
Dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON) are the two most common inherited optic neuropathies encountered in clinical practice. This review provides a summary of recent advances in the understanding of the clinical manifestations, current treatments, and ongoing clinical trials of these two optic neuropathies. Substantial progress has been made in the understanding of the clinical, genetic, and pathophysiological basis of DOA and LHON. Pathogenic OPA1 gene mutations in DOA and 3 primary mutations of mitochondrial DNA in LHON-induced mitochondrial dysfunction, which in turn leads to increased reactive oxygen species levels in mitochondria and possibly insufficient ATP production...
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28941527/pediatric-optic-neuritis
#6
Melinda Y Chang, Stacy L Pineles
Optic neuritis is rare in children in comparison to adults, but accounts for approximately 25% of pediatric acute demyelinating syndromes. Features of pediatric optic neuritis that differ from adults include a higher rate of bilaterality, poor visual acuity on presentation, and papillitis. Diagnostic work-up includes brain magnetic resonance imaging, lumbar puncture, and blood tests to exclude infectious and inflammatory disorders. Pediatric optic neuritis may occur following infection or vaccination, or in association with a systemic demyelinating process such as acute disseminated encephalomyelitis, neuromyelitis optica, or multiple sclerosis...
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28941526/pediatric-myasthenia-gravis
#7
Jason H Peragallo
Myasthenia gravis is a disorder of neuromuscular transmission that leads to fatigue of skeletal muscles and fluctuating weakness. Myasthenia that affects children can be classified into the following 3 forms: transient neonatal myasthenia, congenital myasthenic syndromes, and juvenile myasthenia gravis (JMG). JMG is an autoimmune disorder that has a tendency to affect the extraocular muscles, but can also affect all skeletal muscles leading to generalized weakness and fatigability. Respiratory muscles may be involved leading to respiratory failure requiring ventilator support...
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28941525/pediatric-pseudotumor-cerebri-syndrome-diagnosis-classification-and-underlying-pathophysiology
#8
Claire A Sheldon, Grace L Paley, Shannon J Beres, Shana E McCormack, Grant T Liu
Pseudotumor cerebri syndrome (PTCS) is defined by the presence of elevated intracranial pressure in the setting of normal brain parenchyma and cerebrospinal fluid. PTCS can occur in the pediatric and adult populations and, if untreated, may lead to permanent visual loss. In this review, discussion will focus on PTCS in the pediatric population and will outline its distinct epidemiology and key elements of diagnosis, evaluation and management. Finally, although the precise mechanisms are unclear, the underlying pathophysiology will be considered...
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28941524/juvenile-macular-degenerations
#9
Pablo Altschwager, Lucia Ambrosio, Emily A Swanson, Anne Moskowitz, Anne B Fulton
In this article, we review the following 3 common juvenile macular degenerations: Stargardt disease, X-linked retinoschisis, and Best vitelliform macular dystrophy. These are inherited disorders that typically present during childhood, when vision is still developing. They are sufficiently common that they should be included in the differential diagnosis of visual loss in pediatric patients. Diagnosis is secured by a combination of clinical findings, optical coherence tomography imaging, and genetic testing...
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28941523/a-review-of-visual-and-oculomotor-outcomes-in-children-with-posterior-fossa-tumors
#10
Crandall E Peeler
Tumors of the posterior fossa represent the most common solid malignancy of childhood and can affect the visual system in several ways. This article outlines the relevant visual anatomy affected by these tumors and reviews the visual and oculomotor outcomes associated with the following 3 most common tumor types-medulloblastoma, juvenile pilocytic astrocytoma, and ependymoma. The available data suggest that the rate of permanent vision loss is low (5.9%-8.3%), with patients having juvenile pilocytic astrocytoma demonstrating the best outcomes...
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28779868/neurological-complications-of-nutritional-disease
#11
Aparna Polavarapu, Daphne Hasbani
Vitamins and minerals have essential functions in the body, from signal transduction to acting as cofactors for numerous enzymatic processes. Nutritional deficiencies and excess of certain vitamins and minerals can have profound effects on the central and peripheral nervous systems from early development into adulthood. This article summarizes the role of various nutritional factors in the nervous system and the neurological symptoms that can arise from deficiency or excess.
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28779867/neurological-complications-of-childhood-cancer
#12
Lauren Weaver, Ayman Samkari
Though the treatment of pediatric cancers has come a long way, acute and chronic effects of cancer are still affecting the life of many children. These effects may be caused not only by the malignancy itself but also by the interventions used for the purpose of treatment. 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...
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28779866/neurological-complications-of-rheumatic-disease
#13
Svetlana Lvovich, Donald P Goldsmith
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. Over the past decade, new scientific discoveries highlighted pathways by which immune and neurological systems interact, including a variety of mechanisms controlling permeability of blood-brain barrier, and specific roles that CD4(+) and CD8(+) T-lymphocytes play in initiation of specific adaptive immune response to neural specific antigens...
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28779865/neurological-complications-of-gastrointestinal-disease
#14
Melissa Shapiro, David A Blanco
There is a growing interest in the extraintestinal manifestations of common pediatric gastrointestinal diseases, such as inflammatory bowel disease and celiac disease. This article specifically focuses on the neurological symptoms that manifest because of these disorders and their treatments. Many neurological symptoms have been reported in association with these diseases, including neuropathy, myopathy, ataxia, headache, and seizures, among others. It is currently believed that these neurological symptoms are largely overlooked by practitioners and could be a red flag for earlier diagnosis...
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28779864/neurological-complications-of-endocrine-disease
#15
Karen S Carvalho, Tal Grunwald, Francesco De Luca
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...
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28779863/neurological-complications-of-cardiac-disease
#16
Nandini Madan, Karen S Carvalho
This article focuses on the complex interactions between the cardiovascular and neurologic systems. Initially, we focus on neurological complications in children with congenital heart disease both secondary to the underlying cardiac disease and complications of interventions. We later discuss diagnosis and management of common syncope syndromes with emphasis on vasovagal syncope. We also review the diagnosis, classification, and management of children and adolescents with postural orthostatic tachycardia syndrome...
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28779862/neurological-complications-of-renal-disease
#17
Jorge H Baluarte
Neurological manifestations related to electrolyte disorders, drug toxicity, and uremia are common in chronic kidney disease (CKD). Seizures and coma are frequent complications of acute renal insufficiency (uremia), whereas peripheral neuropathy and encephalopathy, observed in progressive uremia, are terminal events. Failure to excrete metabolic products causes their accumulation 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...
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28779861/neurological-complications-of-respiratory-disease
#18
Puja Mehta, Ana Melikishvili, Karen S Carvalho
The respiratory and central nervous systems are intimately connected. Ventilatory control is strictly regulated by central mechanisms in a complex process that involves central and peripheral chemoreceptors, baroreceptors, the cardiovascular system, and specific areas of the brain responsible for autonomic control. Disorders of the lung and respiratory system can interfere with these mechanisms and temporarily or permanently disrupt this complex network resulting in mild to severe neurological sequelae. This article explores the wide variety of neurological problems resulting from respiratory dysfunction, with emphasis on its pathophysiology, clinical features, prognosis, and long-term outcome...
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28779860/introduction
#19
EDITORIAL
Ignacio Valencia
No abstract text is available yet for this article.
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284396/pyridoxal-phosphate-supplementation-in-neuropediatric-disorders
#20
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
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