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https://www.readbyqxmd.com/read/28414398/tuberous-sclerosis-complex-a-review
#1
Stephanie Carapetian Randle
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can present at any age and can affect multiple organ systems. This disorder is usually identified in infants and children based on characteristic skin lesions, seizures, and cellular overgrowth or hamartomas in the heart, brain, and kidneys. Tuberous sclerosis complex is a genetic disorder caused by a mutation in either the TSC1 or TSC2 gene leading to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular hyperplasia...
April 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28393317/impact-of-an-electronic-monitoring-device-and-behavioral-feedback-on-adherence-to-multiple-sclerosis-therapies-in-youth-results-of-a-randomized-trial
#2
E Ann Yeh, Stephanie A Grover, Victoria E Powell, Gulay Alper, Brenda L Banwell, Kim Edwards, Mark Gorman, Jennifer Graves, Timothy E Lotze, Jean K Mah, Lauren Mednick, Jayne Ness, Maya Obadia, Ruth Slater, Amy Waldman, Emmanuelle Waubant, Carolyn E Schwartz
PURPOSE: To report the results of a randomized controlled trial using an electronic monitoring device (EM) plus a motivational interviewing (MI) intervention to enhance adherence to disease-modifying therapies (DMT) in pediatric MS. METHODS: Fifty-two youth with MS (16.03 ± 2.2 years) were randomized to receive either MI (n = 25) (target intervention) or a MS medication video (n = 27) (attention control). Primary endpoint was change in adherence. Secondary outcomes included changes in quality of life, well-being and self-efficacy...
April 9, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28391783/pediatric-multiple-sclerosis-distinguishing-clinical-and-mr-imaging-features
#3
REVIEW
Silvia N Tenembaum
This article presents an overview of evolving diagnostic criteria of pediatric multiple sclerosis and related disorders, emphasizing distinguishing clinical and neuroimaging features that should be considered for differential diagnosis in childhood and adolescence. New data on the integrity of brain tissue in children with MS provided by advanced MR imaging techniques are addressed as well.
May 2017: Neuroimaging Clinics of North America
https://www.readbyqxmd.com/read/28389054/the-use-of-natalizumab-in-pediatric-patients-with-active-relapsing-multiple-sclerosis-a-prospective-study
#4
Raed Alroughani, Samar Farouk Ahmed, Raed Behbehani, Jasem Al-Hashel
BACKGROUND: Pediatric multiple sclerosis (MS) has been increasingly recognized. In the absence of approved disease-modifying therapies (DMTs) for pediatric patients, clinicians resort to data extrapolated from clinical trials conducted in adults with MS. The objective of this article was to study the effectiveness and safety of natalizumab in with pediatric MS. METHODS: Patients with pediatric MS (aged < 18 years) who had been treated with natalizumab were followed up prospectively as part of the national MS registry...
February 2, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28356466/evidence-for-a-causal-relationship-between-low-vitamin-d-high-bmi-and-pediatric-onset-ms
#5
Milena A Gianfrancesco, Pernilla Stridh, Brooke Rhead, Xiaorong Shao, Edison Xu, Jennifer S Graves, Tanuja Chitnis, Amy Waldman, Timothy Lotze, Teri Schreiner, Anita Belman, Benjamin Greenberg, Bianca Weinstock-Guttman, Gregory Aaen, Jan M Tillema, Janace Hart, Stacy Caillier, Jayne Ness, Yolanda Harris, Jennifer Rubin, Meghan Candee, Lauren Krupp, Mark Gorman, Leslie Benson, Moses Rodriguez, Soe Mar, Ilana Kahn, John Rose, Shelly Roalstad, T Charles Casper, Ling Shen, Hong Quach, Diana Quach, Jan Hillert, Maria Bäärnhielm, Anna Hedstrom, Tomas Olsson, Ingrid Kockum, Lars Alfredsson, Catherine Metayer, Catherine Schaefer, Lisa F Barcellos, Emmanuelle Waubant
OBJECTIVE: To utilize Mendelian randomization to estimate the causal association between low serum vitamin D concentrations, increased body mass index (BMI), and pediatric-onset multiple sclerosis (MS) using genetic risk scores (GRS). METHODS: We constructed an instrumental variable for vitamin D (vitD GRS) by computing a GRS for 3 genetic variants associated with levels of 25(OH)D in serum using the estimated effect of each risk variant. A BMI GRS was also created that incorporates the cumulative effect of 97 variants associated with BMI...
March 29, 2017: Neurology
https://www.readbyqxmd.com/read/28334875/white-matter-changes-in-paediatric-multiple-sclerosis-and-monophasic-demyelinating-disorders
#6
Giulia Longoni, Robert A Brown, Parya MomayyezSiahkal, Colm Elliott, Sridar Narayanan, Amit Bar-Or, Ruth Ann Marrie, E Ann Yeh, Massimo Filippi, Brenda Banwell, Douglas L Arnold
Most children who experience an acquired demyelinating syndrome of the central nervous system will have a monophasic disease course, with no further clinical or radiological symptoms. A subset will be diagnosed with multiple sclerosis, a life-long disorder. Using linear mixed effects models we examined longitudinal diffusion properties of normal-appearing white matter in 505 serial scans of 132 paediatric participants with acquired demyelinating syndromes followed for a median of 4.4 years, many from first clinical presentation, and 106 scans of 80 healthy paediatric participants...
March 14, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28323645/pediatric-multiple-sclerosis
#7
Anusha K Yeshokumar, Sona Narula, Brenda Banwell
PURPOSE OF REVIEW: This review discusses the epidemiologic factors involved in the pathogenesis of pediatric multiple sclerosis (MS), which have been the focus of numerous studies in the last several years. We also review the clinical features (including diagnostic evaluation and differential diagnosis) of, treatment approach to, and prognosis of pediatric MS. RECENT FINDINGS: Up to 10% of patients with MS have their initial demyelinating before the age of 18 years...
March 20, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28322606/cognitive-impairment-in-pediatric-onset-multiple-sclerosis-is-detected-by-the-brief-international-cognitive-assessment-for-multiple-sclerosis-and-computerized-cognitive-testing
#8
Leigh E Charvet, Michael Shaw, Ariana Frontario, Dawn Langdon, Lauren B Krupp
BACKGROUND: Cognitive impairment is a common and troubling feature of pediatric-onset multiple sclerosis (POMS). Brief cognitive assessment in the outpatient setting can identify and longitudinally monitor cognitive involvement so that early intervention is possible. OBJECTIVES: The goal of this study was to measure the sensitivity of two cognitive assessment approaches that are brief, repeatable, and suitable for clinical practice and for multicenter investigation...
March 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28320170/evaluating-the-association-of-allergies-with-multiple-sclerosis-susceptibility-risk-and-disease-activity-in-a-pediatric-population
#9
Theresa Bourne, Michael Waltz, T C Casper, K Kavak, G Aaen, A Belman, L Benson, M Candee, T Chitnis, J Graves, B Greenberg, M Gorman, Y Harris, L Krupp, T Lotze, S Mar, J Ness, C Olsen, S Roalstad, M Rodriguez, J Rose, J Rubin, T Schreiner, J M Tillema, I Kahn, A Waldman, L Barcellos, E Waubant, B Weinstock-Guttman
BACKGROUND: Multiple sclerosis (MS) and allergies are both considered to be related to imbalanced Th1 and Th2 immune responses. Previous studies evaluating the relationship between MS and allergies provide conflicting results. OBJECTIVE: To assess allergies and asthma as risk factors for MS and as predictors of MS relapses in a pediatric cohort. METHODS: The environment and genetic risk factors for pediatric MS study is a national case-control project with 16 participating US sites...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319075/autologous-hematopoietic-stem-cell-transplantation-for-pediatric-multiple-sclerosis-a-registry-based-study-of-the-autoimmune-diseases-working-party-adwp-and-pediatric-diseases-working-party-pdwp-of-the-european-society-for-blood-and-marrow-transplantation-ebmt
#10
J Burman, K Kirgizov, K Carlson, M Badoglio, G L Mancardi, G De Luca, B Casanova, J Ouyang, R Bembeeva, J Haas, P Bader, J Snowden, D Farge
Autologous hematopoietic stem cell transplantation (aHSCT) is a promising therapy for multiple sclerosis (MS), which has mainly been used in adults. The purpose of this study was to investigate efficacy and adverse events of aHSCT in the treatment of children with MS using data from the European Society for Blood and Marrow Transplantation registry. Twenty-one patients with a median follow-up time of 2.8 years could be identified. PFS at 3 years was 100%, 16 patients improved in expanded disability status scale score and only 2 patients experienced a clinical relapse...
March 20, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28302901/treatment-of-renal-angiomyolipoma-and-other-hamartomas-in-patients-with-tuberous-sclerosis-complex
#11
REVIEW
Joshua A Samuels
Tuberous sclerosis complex is an autosomal dominant genetic disease characterized by growth of benign tumors (hamartomas) in multiple organs, especially the kidneys, brain, heart, lungs, and skin. Tuberous sclerosis complex is usually caused by a mutation in either the tuberous sclerosis complex 1 or tuberous sclerosis complex 2 gene, resulting in constitutive activation of mammalian target of rapamycin signaling. Currently, mammalian target of rapamycin inhibitors are recommended in adult patients with tuberous sclerosis complex for the treatment of asymptomatic, growing renal angiomyolipoma that are >3 cm in diameter and pediatric or adult patients with brain lesions (subependymal giant cell astrocytoma) that either are growing or are not amenable to surgical resection...
March 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28286009/pediatric-multiple-sclerosis-presenting-as-area-postrema-syndrome
#12
Sara Vila-Bedmar, Fernando Ostos-Moliz, Ana Camacho-Salas
No abstract text is available yet for this article.
February 11, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28273780/risk-factors-for-non-adherence-to-disease-modifying-therapy-in-pediatric-multiple-sclerosis
#13
Carolyn E Schwartz, Stephanie A Grover, Victoria E Powell, Austin Noguera, Jean K Mah, Soe Mar, Lauren Mednick, Brenda L Banwell, Gulay Alper, Mary Rensel, Mark Gorman, Amy Waldman, Teri Schreiner, Emmanuelle Waubant, E Ann Yeh
BACKGROUND: Adherence to disease-modifying therapies (DMTs) in pediatric multiple sclerosis (MS) is not well understood. We examined the prevalence and risk factors for poor adherence in pediatric MS. METHODS: This cross-sectional study recruited youth with MS from 12 North American pediatric MS clinics. In addition to pharmacy-refill data, patients and parents completed self-report measures of adherence and quality of life. Additionally, patients completed measures of self-efficacy and well-being...
February 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28273766/randomized-clinical-trials-rcts-in-pediatric-multiple-sclerosis-are-they-really-necessary
#14
Angelo Ghezzi
No abstract text is available yet for this article.
December 1, 2016: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28254244/a-potential-life-threatening-reaction-to-glatiramer-acetate-in-rett-syndrome
#15
Andreea Nissenkorn, Mona Kidon, Bruria Ben-Zeev
BACKGROUND: Rett syndrome is an X-linked dominant neurodevelopmental disorder manifesting with severe intellectual disability in females caused by various mutations in the MECP2 gene. Brain-derived neurotrophic factor (BDNF) is one of the main proteins regulated by the MECP2 protein; its overexpression in the MeCP2 mouse model partially corrects the Rett phenotype. Pharmacologic manipulations that lead to increased BDNF in individuals with Rett syndrome are expected to have a positive effect on the disorder...
March 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28229097/pediatric-hypovitaminosis-d-molecular-perspectives-and-clinical-implications
#16
Rafiu Ariganjoye
Vitamin D, a secosteroid, is essential for the development and maintenance of healthy bone in both the adult and pediatric populations. Low level of 25-hydroxy vitamin D (25-(OH)-D) is highly prevalent in children worldwide and has been linked to various adverse health outcomes including rickets, osteomalacia, osteomalacic myopathy, sarcopenia, and weakness, growth retardation, hypocalcemia, seizure and tetany, autism, cardiovascular diseases, diabetes mellitus, cancers (prostate, colon, breast), infectious diseases (viral, tuberculosis), and autoimmune diseases, such as multiple sclerosis and Hashimoto's thyroiditis...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28132974/a-case-of-pediatric-multiple-sclerosis-presenting-with-a-tumefactive-demyelinating-lesion
#17
Hisakazu Majima, Tsuyoshi Ito, Norihisa Koyama
Pediatric multiple sclerosis accompanied by a tumefactive demyelinating lesion (TDL) is extremely rare. Because it is very difficult to distinguish TDLs from neoplasms, invasive brain biopsies are required for a definitive diagnosis. MR spectroscopy (MRS) without brain biopsy was recently shown diagnostic in some patients with TDLs, based on the elevation of glutamate/glutamine peaks. This report describes the clinical course of a 9-year-old girl with multiple sclerosis following a TDL and discusses the usefulness of MRS and brain biopsies to diagnose TDLs...
February 25, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28111033/azathioprine-therapy-in-a-case-of-pediatric-multiple-sclerosis-that-was-seropositive-for-mog-igg
#18
Yifan Zhou, Qiao Huang, Tingting Lu, Xiaobo Sun, Ling Fang, Zhengqi Lu, Xueqiang Hu, Allan Kermode, Wei Qiu
There is a lack of evidence for treatment of pediatric multiple sclerosis (PedMS). Treatment using azathioprine for PedMS has not been reported. A 10-year-old boy with multiple sclerosis who was seropositive for antibodies against myelin oligodendrocyte glycoprotein (MOG)-IgG was treated with azathioprine plus oral methylprednisolone. The patient showed clinical and magnetic resonance imaging stability, with MOG-IgG seroconversion. There were no major side effects over a 5-year period. Azathioprine may be a treatment option, particularly in poor medical resource areas, for pediatric patients with multiple sclerosis who are seropositive for MOG-IgG...
April 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28078569/the-computer-based-symbol-digit-modalities-test-establishing-age-expected-performance-in-healthy-controls-and-evaluation-of-pediatric-ms-patients
#19
Sandra Bigi, R A Marrie, C Till, E A Yeh, N Akbar, A Feinstein, B L Banwell
Decreased information processing speed (IPS) is frequently reported in pediatric multiple sclerosis (MS) patients. The computerized version of the Symbol Digit Modalities Test (c-SDMT) measures IPS over eight consecutive trials per session and additionally captures changes in performance within the session. Here, we establish normative c-SDMT performance and test-retest reliability in healthy children (HC) and explore differences in the overall c-SDMT-performance between HC and MS patients. This cross-sectional study included 478 HC (237 female, 49...
April 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28053999/b-cell-populations-discriminate-between-pediatric-and-adult-onset-multiple-sclerosis
#20
Alexander Schwarz, Bettina Balint, Mirjam Korporal-Kuhnke, Sven Jarius, Kathrin von Engelhardt, Alexandra Fürwentsches, Cornelia Bussmann, Friedrich Ebinger, Brigitte Wildemann, Jürgen Haas
OBJECTIVE: To comparatively assess the B-cell composition in blood and CSF of patients with pediatric-onset multiple sclerosis (pedMS) and adult-onset multiple sclerosis (adMS). METHODS: In this cross-sectional study, we obtained blood and CSF samples from 25 patients with pedMS (8-18 years) and 40 patients with adMS (23-65 years) and blood specimens from 66 controls (1-55 years). By using multicolor flow cytometry, we identified naive, transitional, isotype class-switched memory, nonswitched memory, and double-negative memory B-cell subsets as well as plasmablasts (PB) and terminally differentiated plasma cells (PC)...
January 2017: Neurology® Neuroimmunology & Neuroinflammation
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