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https://www.readbyqxmd.com/read/28623545/analysis-of-genotypes-and-phenotypes-in-chinese-children-with-tuberous-sclerosis-complex
#1
Dayong Bai, Junyang Zhao, Li Li, Jun Gao, Xu Wang
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children (7.00±5.30 years old) with TSC was conducted. A genetic testing of the genes TSC1 and TSC2 was performed in 14 children...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28608742/pediatric-onset-multiple-sclerosis-and-other-acquired-demyelinating-syndromes-of-the-central-nervous-system-in-denmark-during-1977-2015-a-nationwide-population-based-incidence-study
#2
Magnus Spangsberg Boesen, Melinda Magyari, Nils Koch-Henriksen, Lau Caspar Thygesen, Alfred Peter Born, Peter Vilhelm Uldall, Morten Blinkenberg
BACKGROUND: The incidence of acquired demyelinating syndromes (ADS) including multiple sclerosis (MS) has never been investigated in a Danish pediatric population. OBJECTIVES: We estimated the nationwide age- and sex-specific incidence of pediatric ADS including MS. METHODS: Data were sourced from the Danish Multiple Sclerosis Registry, providing cases of pediatric MS for 1977-2015, and the National Patient Register, providing cases of ADS during 2008-2015...
June 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28608728/dietary-factors-and-pediatric-multiple-sclerosis-a-case-control-study
#3
Julia Pakpoor, Brandon Seminatore, Jennifer S Graves, Teri Schreiner, Amy T Waldman, Timothy E Lotze, Anita Belman, Benjamin M Greenberg, Bianca Weinstock-Guttman, Gregory Aaen, Jan-Mendelt Tillema, Jamie C McDonald, Janace Hart, Jayne M Ness, Yolanda Harris, Jennifer Rubin, Meghan Candee, Lauren Krupp, Mark Gorman, Leslie Benson, Moses Rodriguez, Tanuja Chitnis, Soe Mar, Ilana Kahn, John Rose, Suzan L Carmichael, Shelly Roalstad, Michael Waltz, T Charles Casper, Emmanuelle Waubant
BACKGROUND: The role of diet in multiple sclerosis (MS) is largely uncharacterized, particularly as it pertains to pediatric-onset disease. OBJECTIVE: To determine the association between dietary factors and MS in children. METHODS: Pediatric MS patients and controls were recruited from 16 US centers (MS or clinically isolated syndrome onset before age 18, <4 years from symptom onset and at least 2 silent lesions on magnetic resonance imaging)...
June 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28562303/maternal-and-perinatal-exposures-are-associated-with-risk-for-pediatric-onset-multiple-sclerosis
#4
Jennifer S Graves, Tanuja Chitnis, Bianca Weinstock-Guttman, Jennifer Rubin, Aaron S Zelikovitch, Bardia Nourbakhsh, Timothy Simmons, Michael Waltz, T Charles Casper, Emmanuelle Waubant
OBJECTIVE: To determine if prenatal, pregnancy, or postpartum-related environmental factors are associated with multiple sclerosis (MS) risk in children. METHODS: This is a case-control study of children with MS or clinically isolated syndrome and healthy controls enrolled at 16 clinics participating in the US Network of Pediatric MS Centers. Parents completed a comprehensive environmental questionnaire, including the capture of pregnancy and perinatal factors. Case status was confirmed by a panel of 3 pediatric MS specialists...
April 2017: Pediatrics
https://www.readbyqxmd.com/read/28535894/association-between-demyelinating-disease-and-autoimmune-rheumatic-disease-in-a-pediatric-population
#5
Ana Luiza M Amorim, Nadia C Cabral, Fabiane M Osaku, Claudio A Len, Enedina M L Oliveira, Maria Teresa Terreri
INTRODUCTION: Multiple sclerosis (MS) and neuromyelitis optica (NMO) are demyelinating diseases of the central nervous system. Autoimmunity in patients with demyelinating disease and in their families has been broadly investigated and discussed. Recent studies show a higher incidence of rheumatic autoimmune diseases among adult patients with MS or NMO and their families, but there are no studies in the pediatric population. OBJECTIVE: To evaluate an association of MS and NMO with autoimmune rheumatic diseases in pediatric patients...
May 2017: Revista Brasileira de Reumatologia
https://www.readbyqxmd.com/read/28533781/myelin-oligodendrocyte-glycoprotein-deciphering-a-target-in-inflammatory-demyelinating-diseases
#6
REVIEW
Patrick Peschl, Monika Bradl, Romana Höftberger, Thomas Berger, Markus Reindl
Myelin oligodendrocyte glycoprotein (MOG), a member of the immunoglobulin (Ig) superfamily, is a myelin protein solely expressed at the outermost surface of myelin sheaths and oligodendrocyte membranes. This makes MOG a potential target of cellular and humoral immune responses in inflammatory demyelinating diseases. Due to its late postnatal developmental expression, MOG is an important marker for oligodendrocyte maturation. Discovered about 30 years ago, it is one of the best-studied autoantigens for experimental autoimmune models for multiple sclerosis (MS)...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28504501/-bowel-obstruction-by-hamartomatous-polyp-in-a-pediatric-patient-with-tuberous-sclerosis
#7
Adriana V Scrigni, Adriana Bottero, Andrea Bosaleh, Nuria Aisenberg, Marcela Paglia, Lisandro Manfrin, Tai C Luong
Tuberous sclerosis is an autosomal dominant disorder with a wide clinical spectrum of disease. It is characterized by development of benign tumors in multiple organs due to a disturbance in cellular growth and differentiation. It usually affects skin, brain, heart and kidney. Gastrointestinal involvement is rare and mainly restricted to adults and sigmoid colon and rectum. In children there are only two cases; our patient would be the third. We present a patient with tuberous sclerosis who began at the first month of life with repeated intestinal subocclusion...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28445083/fatigue-and-physical-functioning-in-children-with-multiple-sclerosis-and-acute-disseminated-encephalomyelitis
#8
Leontien Cc Toussaint-Duyster, Yu Yi M Wong, Monique Hm Van der Cammen-van Zijp, Daniëlle Van Pelt-Gravesteijn, Coriene E Catsman-Berrevoets, Rogier Q Hintzen, Rinze F Neuteboom
BACKGROUND AND OBJECTIVE: Fatigue and physical impairments are a major concern in children with multiple sclerosis (MS) and after acute disseminated encephalomyelitis (post-ADEM). We here aimed to evaluate the interaction between fatigue, exercise capacity, motor performance, neurological status, and quality of life (HRQoL). METHODS: In this cross-sectional study, data of 38 children (MS n = 22, post-ADEM n = 16), aged 4-17 years attending our national pediatric MS center, were studied...
April 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28440255/clinical-profile-and-neuroimaging-in-pediatric-optic-neuritis-in-indian-population-a-case-series
#9
Rutika Khadse, Meenakshi Ravindran, Neelam Pawar, Padmavathy Maharajan, Ramakrishnan Rengappa
PURPOSE OF THE STUDY: The purpose of this study was to report clinical features, neuroimaging, and visual outcome in pediatric optic neuritis (ON) in Indian population. MATERIALS AND METHODS: This is a retrospective study of children up to the age of 16 years, diagnosed with ON, that presented at pediatric and neuroophthalmology clinic of a tertiary eye care center, in South India, within the period of 2010-2015. RESULTS: We identified 62 eyes of 40 children diagnosed as ON within the study period...
March 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28439957/prognostic-indicators-in-pediatric-clinically-isolated-syndrome
#10
Pietro Iaffaldano, Marta Simone, Giuseppe Lucisano, Angelo Ghezzi, Gabriella Coniglio, Vincenzo Brescia Morra, Giuseppe Salemi, Francesco Patti, Alessandra Lugaresi, Guillermo Izquierdo, Roberto Bergamaschi, Jose Antonio Cabrera-Gomez, Carlo Pozzilli, Enrico Millefiorini, Raed Alroughani, Cavit Boz, Eugenio Pucci, Giovanni Bosco Zimatore, Patrizia Sola, Giacomo Lus, Davide Maimone, Carlo Avolio, Eleonora Cocco, Seyed Aidin Sajedi, Gianfranco Costantino, Pierre Duquette, Vahid Shaygannejad, Thor Petersen, Ricardo Fernández Bolaños, Damiano Paolicelli, Carla Tortorella, Tim Spelman, Lucia Margari, Maria Pia Amato, Giancarlo Comi, Helmut Butzkueven, Maria Trojano
OBJECTIVE: To assess prognostic factors for a second clinical attack and a first disability-worsening event in pediatric clinically isolated syndrome (pCIS) suggestive of multiple sclerosis (MS) patients. METHODS: A cohort of 770 pCIS patients was followed up for at least 10 years. Cox proportional hazard models and Recursive Partitioning and Amalgamation (RECPAM) tree-regression were used to analyze data. RESULTS: In pCIS, female sex and a multifocal onset were risk factors for a second clinical attack (hazard ratio [HR], 95% confidence interval [CI] = 1...
May 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28414398/tuberous-sclerosis-complex-a-review
#11
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
#12
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
#13
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
#14
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
#15
MULTICENTER STUDY
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...
April 25, 2017: Neurology
https://www.readbyqxmd.com/read/28334875/white-matter-changes-in-paediatric-multiple-sclerosis-and-monophasic-demyelinating-disorders
#16
Giulia Longoni, Robert A Brown, Parya MomayyezSiahkal, Colm Elliott, Sridar Narayanan, Amit Bar-Or, Ruth Marrie, 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
#17
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...
June 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
#18
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
#19
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
#20
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
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