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https://www.readbyqxmd.com/read/28933245/therapy-of-highly-active-pediatric-multiple-sclerosis
#1
Peter Huppke, Brenda Huppke, David Ellenberger, Kevin Rostasy, Hannah Hummel, Wiebke Stark, Wolfgang Brück, Jutta Gärtner
OBJECTIVE: Study aims were to determine the frequency of highly active disease in pediatric multiple sclerosis (MS), the response to natalizumab (NTZ) and fingolimod (FTY) treatment, and the impact of current treatment modalities on the clinical course. METHODS: Retrospective single-center study in the German Center for MS in Childhood and Adolescence. RESULTS: Of 144 patients with first MS manifestation between 2011 and 2015, 41.6% fulfilled the criteria for highly active MS...
September 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28932395/japanese-wdr45-de-novo-mutation-diagnosed-by-exome-analysis-a-case-report
#2
Hironobu Endo, Takeshi Uenaka, Wataru Satake, Yutaka Suzuki, Hisatsugu Tachibana, Norio Chihara, Takehiro Ueda, Kenji Sekiguchi, Taniguchi-Ikeda Mariko, Hisatomo Kowa, Fumio Kanda, Tatsushi Toda
A 40-year-old Japanese woman presented with slowly progressing parkinsonism in adulthood. She had a history of epilepsy with intellectual disability in childhood. In a head magnetic resonance scan, T2-weighted imaging showed low signal intensity areas in the globus pallidus and the substantia nigra; T1-weighted imaging showed a halo in the nigra. Because the patient's symptoms and history were similar to those of patients with neurodegeneration with brain iron accumulation, we ran an exome analysis to investigate neurodegeneration with brain iron accumulation-associated genes...
July 2017: Neurology and Clinical Neuroscience
https://www.readbyqxmd.com/read/28923429/frequency-of-auditory-involvement-and-of-associated-factors-in-patients-with-juvenile-idiopathic-arthritis
#3
Adriana Ivonne Céspedes Cruz, Myriam Méndez Núñez, Eunice Solís Vallejo, Maritza Zeferino Cruz, Alfonso Ragnar Torres Jiménez, Verónica Ocampo Sánchez, Beatriz Flores Meza, Norma Quintana Ruiz
INTRODUCTION: Juvenile idiopathic arthritis (JIA) is a chronic autoimmune disease characterized by the presence of arthritis in children under 16 years of age for more than 6 weeks in the absence of any other known cause. The extra-articular manifestations, especially in the audiovestibular system, are related to the involvement of the joints of the ossicular chain as a result of the inflammatory process in the synovium. Previous clinical studies in pediatric patients have shown conductive or sensorineural hearing loss...
September 8, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/28919117/global-regional-and-national-incidence-prevalence-and-years-lived-with-disability-for-328-diseases-and-injuries-for-195-countries-1990-2016-a-systematic-analysis-for-the-global-burden-of-disease-study-2016
#4
(no author information available yet)
BACKGROUND: As mortality rates decline, life expectancy increases, and populations age, non-fatal outcomes of diseases and injuries are becoming a larger component of the global burden of disease. The Global Burden of Diseases, Injuries, and Risk Factors Study 2016 (GBD 2016) provides a comprehensive assessment of prevalence, incidence, and years lived with disability (YLDs) for 328 causes in 195 countries and territories from 1990 to 2016. METHODS: We estimated prevalence and incidence for 328 diseases and injuries and 2982 sequelae, their non-fatal consequences...
September 16, 2017: Lancet
https://www.readbyqxmd.com/read/28918504/autism-spectrum-disorders-and-disease-modeling-using-stem-cells
#5
REVIEW
Anita Brito, Fabiele Baldino Russo, Alysson Renato Muotri, Patricia Cristina Baleeiro Beltrão-Braga
Autism spectrum disorders (ASD) represent a variety of disorders characterized as complex lifelong neurodevelopment disabilities, which may affect the ability of communication and socialization, including typical comportments like repetitive and stereotyped behavior. Other comorbidities are usually present, such as echolalia, hypotonia, intellectual disability and difficulties in processing figured speech. Furthermore, some ASD individuals may present certain abilities, such as eidetic memory, outstanding musical or painting talents and special mathematical skills, among others...
September 16, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28915813/the-relationship-between-burden-of-childhood-disease-and-foreign-aid-for-child-health
#6
J Clay Bavinger, Paul Wise, Eran Bendavid
BACKGROUND: We sought to examine the relationship between child specific health aid (CHA) and burden of disease. Based on existing evidence, we hypothesized that foreign aid for child health would not be proportional to burden of disease. METHODS: In order to examine CHA and burden of disease, we obtained estimates of these parameters from established sources. Estimates of disability adjusted life years (DALYs) in children (0-5 years) were obtained from the World Health Organization for 2000 and 2012...
September 15, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28915337/the-cost-and-cost-effectiveness-of-childhood-cancer-treatment-in-el-salvador-central-america-a-report-from-the-childhood-cancer-2030-network
#7
Soad Fuentes-Alabi, Nickhill Bhakta, Roberto Franklin Vasquez, Sumit Gupta, Susan E Horton
BACKGROUND: Although previous studies have examined the cost of treating individual childhood cancers in low-income and middle-income countries, to the authors' knowledge none has examined the overall cost and cost-effectiveness of operating a childhood cancer treatment center. Herein, the authors examined the cost and sources of financing of a pediatric cancer unit in Hospital Nacional de Ninos Benjamin Bloom in El Salvador, and make estimates of cost-effectiveness. METHODS: Administrative data regarding costs and volumes of inputs were obtained for 2016 for the pediatric cancer unit...
September 15, 2017: Cancer
https://www.readbyqxmd.com/read/28899476/-advances-in-genetic-research-of-cerebral-palsy
#8
Fang-Fang Wang, Rong Luo, Yi Qu, De-Zhi Mu
Cerebral palsy is a group of syndromes caused by non-progressive brain injury in the fetus or infant and can cause disabilities in childhood. Etiology of cerebral palsy has always been a hot topic for clinical scientists. More and more studies have shown that genetic factors are closely associated with the development of cerebral palsy. With the development and application of various molecular and biological techniques such as chromosome microarray analysis, genome-wide association study, and whole exome sequencing, new achievements have been made in the genetic research of cerebral palsy...
September 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28894950/autism-spectrum-disorder-an-early-and-frequent-feature-in-cerebrotendinous-xanthomatosis
#9
Bianca M L Stelten, Olivier Bonnot, Hidde H Huidekoper, Francjan J van Spronsen, Peter M van Hasselt, Leo A J Kluijtmans, Ron A Wevers, Aad Verrips
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability at adult age. Infantile-onset diarrhea and juvenile-onset cataract are the earliest symptoms in childhood. In the current study, we evaluated the presence of autism spectrum disorder (ASD) in a large cohort of CTX patients. METHODS: We performed a retrospective patient file study in 77 genetically confirmed Dutch CTX patients to determine the frequency of ASD...
September 11, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28892475/cost-effectiveness-of-a-national-enterovirus-71-vaccination-program-in-china
#10
Wenjun Wang, Jianwen Song, Jingjing Wang, Yaping Li, Huiling Deng, Mei Li, Ning Gao, Song Zhai, Shuangsuo Dang, Xin Zhang, Xiaoli Jia
BACKGROUND AND AIMS: Enterovirus 71 (EV71) has caused great morbidity, mortality, and use of health service in children younger than five years in China. Vaccines against EV71 have been proved effective and safe by recent phase 3 trials and are now available in China. The purpose of this study was to evaluate the health impact and cost-effectiveness of a national EV71 vaccination program in China. METHODS: Using Microsoft Excel, a decision model was built to calculate the net clinical and economic outcomes of EV71 vaccination compared with no EV71 vaccination in a birth cohort of 1,000,000 Chinese children followed for five years...
September 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28891745/motor-control-of-handwriting-in-the-developing-brain-a-review
#11
Sarah Palmis, Jeremy Danna, Jean-Luc Velay, Marieke Longcamp
This review focuses on the acquisition of writing motor aspects in adults, and in 5-to 12-year-old children without learning disabilities. We first describe the behavioural aspects of adult writing and dominant models based on the notion of motor programs. We show that handwriting acquisition is characterized by the transition from reactive movements programmed stroke-by-stroke in younger children, to an automatic control of the whole trajectory when the motor programs are memorized at about 10 years old. Then, we describe the neural correlates of adult writing, and the changes that could occur with learning during childhood...
September 11, 2017: Cognitive Neuropsychology
https://www.readbyqxmd.com/read/28883878/the-report-of-three-rare-cases-of-the-niemann-pick-disease-in-birjand-south-khorasan-eastern-iran
#12
Samaneh Noroozi Asl, Rahim Vakili, Nosrat Ghaemi, Peyman Eshraghi
Niemann-Pick disease type C (NP-C) is a rare neurovisceral and irreversible disease leading to premature death and disabling neurological signs. This autosomal recessive disease with incidence rate of 1:120000 is caused by mutations in either the NPC1 or the NPC2 gene, which leads to accumulation of cholesterol in body tissues especially brain and progressive neurological symptoms. NP-C is characterized by nonspecific visceral, neurological and psychiatric manifestations in infants. The neurological involvement is typically proceeded by systemic signs (cholestatic jaundice in the neonatal period or isolated spleno-or hepatosplenomegaly in infancy or childhood)...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28882085/psychotherapeutic-and-vocational-interventions-among-young-adults-with-work-disability-due-to-mental-disorders-in-finland
#13
Pauliina Mattila-Holappa, Matti Joensuu, Kirsi Ahola, Teija Kivekäs, Mika Kivimäki, Aki Koskinen, Marianna Virtanen
Backround: Little is known about treatment and rehabilitation received and planned among young adults with work disability due to a mental disorder. AIMS: To examine the implemented psychotherapeutic and vocational interventions and treatment plans among young adults with work disability due to a mental disorder. MATERIAL AND METHODS: Data were collected from medical records of young Finnish adults aged 18-34 with a long-term work disability history due to a mental disorder (N = 1163)...
September 7, 2017: Scandinavian Journal of Occupational Therapy
https://www.readbyqxmd.com/read/28880200/the-endocannabinoid-system-and-autism-spectrum-disorders-insights-from-animal-models
#14
REVIEW
Erica Zamberletti, Marina Gabaglio, Daniela Parolaro
Autism spectrum disorder (ASD) defines a group of neurodevelopmental disorders whose symptoms include impaired communication and social interaction with restricted or repetitive motor movements, frequently associated with general cognitive deficits. Although it is among the most severe chronic childhood disorders in terms of prevalence, morbidity, and impact to the society, no effective treatment for ASD is yet available, possibly because its neurobiological basis is not clearly understood hence specific drugs have not yet been developed...
September 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28877141/the-incidence-of-adverse-childhood-experiences-aces-and-their-association-with-pain-related-and-psychosocial-impairment-in-youth-with-chronic-pain
#15
Sarah Nelson, Laura Simons, Deirdre Logan
OBJECTIVES: Adverse childhood experiences (ACEs) in youth have been found to be frequently associated with several chronic illnesses, including chronic pain. However, this relationship remains poorly understood. Previous research has examined the association between ACEs and chronic pain, but these have primarily been examined in the context of adults with limited assessment of ACEs and individual pain conditions. The primary objectives of this study were to examine the incidence and psychological/pain-related correlates of ACEs in a sample of youth with chronic pain...
September 1, 2017: Clinical Journal of Pain
https://www.readbyqxmd.com/read/28872351/neuropsychological-outcome-of-children-with-traumatic-brain-injury-and-its-association-with-late-magnetic-resonance-imaging-findings-a-cohort-study
#16
Daniele S J Volpe, Nátali C A C Oliveira, A Carlos Santos, Maria B M Linhares, Ana P C P Carlotti
OBJECTIVES: To evaluate neuropsychological outcome after traumatic brain injury (TBI) and its association with trauma severity and late magnetic resonance imaging (MRI) findings. METHODS: Prospective cohort study of patients with TBI admitted to the paediatric intensive care unit over 5 years. Trauma severity was determined by Glasgow Coma Scale (GCS), neurological outcome by King's Outcome Scale for Childhood Head Injury (KOSCHI) and neuropsychological outcome by Wechsler Intelligence Scale for Children - Fourth Edition...
September 5, 2017: Brain Injury: [BI]
https://www.readbyqxmd.com/read/28869097/cbt-in-the-prevention-of-psychosis-and-other-severe-mental-disorders-in-patients-with-an-at-risk-mental-state-a-review-and-proposed-next-steps
#17
Mark van der Gaag, David van den Berg, Helga Ising
Patients with an 'At risk mental state' (ARMS) for developing psychosis can be treated successfully with CBT to postpone and prevent the transition to a first psychotic episode. A characteristic of individuals that meet ARMS criteria is that they are still open for multiple explanations for extraordinary experiences. CBT aims to normalize extraordinary experiences with education and to prevent delusional explanations. The treatment is not only effective, but also cost-saving in averting psychosis as well as in reducing disability adjusted life years at 18- and 48-month follow-up...
August 28, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28865465/gender-childhood-and-adult-socioeconomic-inequalities-in-functional-disability-among-chinese-older-adults
#18
Yaqin Zhong, Jian Wang, Stephen Nicholas
BACKGROUND: Gender difference and life-course socioeconomic inequalities in functional disability may exist among older adults. However, the association is less well understood among Chinese older population. The objective is to provide empirical evidences on this issue by exploring the association between gender, childhood and adult socioeconomic inequalities in functional disability. METHODS: Data from the 2013 wave of the China Health and Retirement Longitudinal Study (CHARLS) was utilized...
September 2, 2017: International Journal for Equity in Health
https://www.readbyqxmd.com/read/28865001/the-social-networks-of-children-with-and-without-disabilities-in-early-childhood-special-education-classrooms
#19
Jing Chen, Tzu-Jung Lin, Laura Justice, Brook Sawyer
Interaction with peers is an important contributor to young children's social and cognitive development. Yet, little is known about the nature of social networks within preschool inclusive classrooms. The current study applied a social network analysis to characterize children's peer interactions in inclusive classrooms and their relations with children's disability status. The participants were 485 preschoolers from 64 early childhood special education (ECSE) inclusive classrooms. Results from teachers' report of children's social networks showed that children with disabilities formed smaller play networks compared to their typically developing peers in the classroom, but no evidence indicated that children with disabilities engaged in more conflict networks than their counterparts...
September 1, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28864712/age-at-intervention-for-permanent-hearing-loss-and-5-year-language-outcomes
#20
Teresa Y C Ching, Harvey Dillon, Laura Button, Mark Seeto, Patricia Van Buynder, Vivienne Marnane, Linda Cupples, Greg Leigh
OBJECTIVES: Universal newborn hearing screening has been implemented to detect permanent childhood hearing loss (PCHL) early, with the ultimate goal of improving outcomes through early treatment. However, there is disagreement between studies on the size of this benefit and in some cases whether it is significantly different from 0. There have been no studies of sufficient size in which researchers have determined reliably whether the effect varies with degree of PCHL. We aimed to explore how intervention timing influences 5-year language in children with PCHL...
September 2017: Pediatrics
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