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https://www.readbyqxmd.com/read/27914152/pediatric-multiple-sclerosis-in-portugal-a-multicentre-study
#1
Ana Sofia Correia, Luís Augusto, Joana Meireles, Joana Pinto, Ana Paula Sousa
INTRODUCTION: Multiple sclerosis is most often diagnosed among young adults but less frequently it may present during childhood or adolescence. In Portugal, there has been only one previous single-center, pediatric multiple sclerosis study. The main objective was the evaluation of the demographic, clinical, laboratorial and neuroradiological characteristics of patients with pediatric-onset multiple sclerosis in Portugal. The secondary objectives were to compare the characteristics of childhood-onset multiple sclerosis and adolescent-onset multiple sclerosis and to characterize the treatments prescribed...
August 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/27907230/reverse-geroscience-how-does-exposure-to-early-diseases-accelerate-the-age-related-decline-in-health
#2
Ronald A Kohanski, Steven G Deeks, Claudia Gravekamp, Jeffrey B Halter, Kevin High, Arti Hurria, Rebecca Fuldner, Paige Green, Robin Huebner, Francesca Macchiarini, Felipe Sierra
Aging is the major risk factor for both the development of chronic diseases and loss of functional capacity. Geroscience provides links among the biology of aging, the biology of disease, and the physiology of frailty, three fields where enormous progress has been made in the last few decades. While, previously, the focus was on the role of aging in susceptibility to disease and disability, the other side of this relationship, which is the contribution of disease to aging, has been less explored at the molecular/cellular level...
December 1, 2016: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/27905923/navigating-the-journey-of-aboriginal-childhood-disability-a-qualitative-study-of-carers-interface-with-services
#3
Anna Green, Penelope Abbott, Patricia Delaney, Patrick Patradoon-Ho, John Delaney, Patricia Mary Davidson, Michelle DiGiacomo
BACKGROUND: The disadvantage experienced by Aboriginal and Torres Strait Islander children with a disability is well recognized. The long term consequences of failing to address disability on health, education and employment underlies the importance of early intervention. Caregivers experience a disproportionate burden and have challenges accessing services. The aim of this study was to describe the carer journey of accessing support and services. METHODS: We conducted in-depth semi-structured interviews with nineteen parents and carers of Aboriginal children aged 0-8 years...
December 1, 2016: BMC Health Services Research
https://www.readbyqxmd.com/read/27902544/academic-achievement-in-adults-with-a-history-of-childhood-attention-deficit-hyperactivity-disorder-a-population-based-prospective-study
#4
Robert G Voigt, Slavica K Katusic, Robert C Colligan, Jill M Killian, Amy L Weaver, William J Barbaresi
OBJECTIVE: Previous research on the developmental course of attention-deficit/hyperactivity disorder (ADHD) is limited by biased clinic-referred samples and other methodological problems. Thus, questions about adult academic outcomes associated with childhood ADHD remain unanswered. Thus, the objective of this study was to describe academic outcomes in adulthood among incident cases of research-identified childhood ADHD versus non-ADHD referents from a population-based birth cohort. METHOD: Young adults with research-identified childhood ADHD (N = 232; mean age 27...
November 23, 2016: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/27885548/health-related-quality-of-life-in-long-term-survivors-of-acute-lymphoblastic-leukemia-in-childhood-and-adolescence
#5
T Nayiager, L Anderson, A Cranston, U Athale, R D Barr
PURPOSE: Children with acute lymphoblastic leukemia (ALL), the commonest form of cancer in this age group, suffer considerable morbidity during treatment, with the majority returning to good health soon after therapy has been completed, as reflected in health-related quality of life (HRQL). However, survivors are at risk of many adverse health outcomes later, including obesity, measured by body mass index (BMI), that is compounded by limited physical activity. This study examined the HRQL of long-term survivors of ALL and its relationship to BMI and physical activity...
November 24, 2016: Quality of Life Research
https://www.readbyqxmd.com/read/27881144/comparison-of-treatment-response-remission-rate-and-drug-adherence-in-polyarticular-juvenile-idiopathic-arthritis-patients-treated-with-etanercept-adalimumab-or-tocilizumab
#6
Gerd Horneff, Ariane Klein, Jens Klotsche, Kirsten Minden, Hans-Iko Huppertz, Frank Weller-Heinemann, Jasmin Kuemmerle-Deschner, Johannes-Peter Haas, Anton Hospach
BACKGROUND: Treatment response, remission rates and compliance in patients with polyarticular juvenile idiopathic arthritis (polyJIA) treated with adalimumab, etanercept, or tocilizumab were analyzed in clinical practice. METHODS: Data collected in the German BIKER registry were analyzed in patients with polyJIA who started treatment with approved biologics, adalimumab, etanercept or tocilizumab, from 2011 to 2015. Baseline patient characteristics, treatment response, safety and drug survival were compared...
November 24, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27879500/implications-of-preterm-birth-for-maternal-mental-health-and-infant-development
#7
Cheryl Anderson, Priscila Cacola
Preterm birth remains a major contributor to infant mortality and morbidity including neurodevelopmental delay and childhood disability. Mothers experiencing a preterm birth are at risk for maternal mental health issues, inclusive of depression and posttraumatic stress disorder (PTSD), which may affect mother-infant attachment and infant development. Depression and PTSD, frequently comorbid, following preterm birth and relationships between these symptoms, maternal-infant attachment, and infant development are reviewed...
November 22, 2016: MCN. the American Journal of Maternal Child Nursing
https://www.readbyqxmd.com/read/27873009/systematic-review-and-need-assessment-of-pediatric-trauma-outcome-benchmarking-tools-for-low-resource-settings
#8
REVIEW
Etienne St-Louis, Jade Séguin, Daniel Roizblatt, Dan Leon Deckelbaum, Robert Baird, Tarek Razek
INTRODUCTION: Trauma is a leading cause of mortality and disability in children worldwide. The World Health Organization reports that 95% of all childhood injury deaths occur in Low-Middle-Income Countries (LMIC). Injury scores have been developed to facilitate risk stratification, clinical decision making, and research. Trauma registries in LMIC depend on adapted trauma scores that do not rely on investigations that require unavailable material or human resources. We sought to review and assess the existing trauma scores used in pediatric patients...
November 21, 2016: Pediatric Surgery International
https://www.readbyqxmd.com/read/27871429/novel-sacs-mutations-associated-with-intellectual-disability-epilepsy-and-widespread-supratentorial-abnormalities
#9
Zafar Ali, Joakim Klar, Mohammad Jameel, Kamal Khan, Ambrin Fatima, Raili Raininko, Shahid Baig, Niklas Dahl
We describe eight subjects from two consanguineous families segregating with autosomal recessive childhood onset spastic ataxia, peripheral neuropathy and intellectual disability. The degree of intellectual disability varied from mild to severe and all four affected individuals in one family developed aggressive behavior and epilepsy. Using exome sequencing, we identified two novel truncating mutations (c.2656C>T (p.Gln886*)) and (c.4756_4760delAATCA (p.Asn1586Tyrfs*3)) in the SACS gene responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)...
December 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27864749/incidence-and-impact-of-unintentional-childhood-injuries-a-community-based-study-in-rural-south-india
#10
Leeberk Raja Inbaraj, Anuradha Rose, Kuryan George, Anuratha Bose
OBJECTIVE: To estimate the incidence of unintentional childhood injuries and to assess the impact of injury during childhood. METHODS: This is a cross sectional study, conducted in 13 clusters of a rural block in Vellore. Children were screened by two-stage cluster sampling method by two weeks and three months recall method. The primary caregivers of injured children were administered a questionnaire to assess the impact of the injury. RESULTS: Childhood injury related morbidity was 292...
November 19, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27861471/-comparison-of-peak-oxygen-uptake-and-ve-vco2-slope-between-children-with-and-without-heart-failure
#11
Hermes Ilarraza-Lomelí, Irma Miranda Chávez, Javier Castañeda-López, Rafael Chávez-Domínguez, Carlos Felipe Barrera-Ramírez, Marianna García-Saldivia, María Dolores Rius-Suárez, Alfonso Buendía-Hernández
: Heart failure is a health problem associated with disability and mortality. Physicians may stratify the risk of adult patients with heart failure using a cardiopulmonary exercise testing. Until now, in childhood this evaluation has been poorly used. The purpose of this study is to compare the peak oxygen uptake and minute ventilation/carbon dioxide production slope among children with heart failure versus children without heart disease (control). METHODS: Thirty-eight children with heart failure were compared with 194 children without heart disease...
November 2016: Gaceta Médica de México
https://www.readbyqxmd.com/read/27858369/cerebrotendinous-xanthomatosis-presenting-with-infantile-spasms-and-intellectual-disability
#12
Austin Larson, James D Weisfeld-Adams, Tim A Benke, Penelope E Bonnen
Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease. Symptoms often begin in the first decade of life with chronic diarrhea, cataracts, developmental delay, intellectual disability, and cerebellar or pyramidal dysfunction. Later manifestations include tendon xanthomas, polyneuropathy, and abnormal neuroimaging. Pathogenic biallelic variants in CYP27A1 leading to compromised function of sterol 27-hydroxylase result in accumulation of detectable toxic intermediates of bile acid synthesis rendering both genetic and biochemical testing effective diagnostic tools...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27854230/developmental-milestones-and-quality-of-life-assessment-in-a-congenital-myotonic-dystrophy-cohort
#13
Madhavi Prasad, Rhiannon Hicks, Melissa MacKay, Cam-Tu Nguyen, Craig Campbell
BACKGROUND: Congenital myotonic dystrophy (CDM) is a neuromuscular disorder caused by a CTG triplet repeat expansion in the DMPK gene. In addition to the expected motor delay, affected children often have significant developmental disability in language and cognitive realms, which ultimately impacts on quality of life. OBJECTIVE: In a prospective cohort of children with CDM to 1) present the profile of language and motor developmental milestones, and 2) describe their early childhood health related quality of life (HRQOL)...
August 30, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27853506/household-air-pollution-and-its-effects-on-health
#14
REVIEW
Komalkirti Apte, Sundeep Salvi
Household air pollution is a leading cause of disability-adjusted life years in Southeast Asia and the third leading cause of disability-adjusted life years globally. There are at least sixty sources of household air pollution, and these vary from country to country. Indoor tobacco smoking, construction material used in building houses, fuel used for cooking, heating and lighting, use of incense and various forms of mosquito repellents, use of pesticides and chemicals used for cleaning at home, and use of artificial fragrances are some of the various sources that contribute to household air pollution...
2016: F1000Research
https://www.readbyqxmd.com/read/27852232/novel-homozygous-missense-mutation-in-gan-associated-with-charcot-marie-tooth-disease-type-2-in-a-large-consanguineous-family-from-israel
#15
Sharon Aharoni, Katy E S Barwick, Rachel Straussberg, Gaurav V Harlalka, Yoram Nevo, Barry A Chioza, Meriel M McEntagart, Aviva Mimouni-Bloch, Michael Weedon, Andrew H Crosby
BACKGROUND: CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration. Classical giant axonal neuropathy (GAN) is an autosomal recessively inherited progressive neurodegenerative disorder of the peripheral and central nervous systems, typically diagnosed in early childhood and resulting in death by the end of the third decade...
November 16, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27848051/continuity-and-change-in-cognition-and-autism-severity-from-toddlerhood-to-school-age
#16
Megan L E Clark, Josephine Barbaro, Cheryl Dissanayake
: This paper charted the cognitive and behavioural profiles from toddlerhood to middle childhood in 48 children diagnosed with ASD at 24-months. The Mullen Scales of Early Learning (MSEL) was administered at 24- and 48-months and the Wechsler Abbreviated Scale of Intelligence (WASI) at school age. Autism severity was derived using The Autism Diagnostic Observation Schedule (ADOS) Results: Developmental Disability/Intellectual Disability (DD/ID; Developmental Quotient <70) reduced from 64% at 24-months to 8% at outcome...
November 15, 2016: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/27847129/a-ten-year-follow-up-cohort-study-of-childhood-epilepsy-changes-in-epilepsy-diagnosis-with-age
#17
Yoshiyuki Hanaoka, Harumi Yoshinaga, Katsuhiro Kobayashi
OBJECTIVE: To elucidate all of the characteristics of childhood epilepsy, we performed a long-term follow-up study on the patients who visited Okayama University Hospital. SUBJECTS AND METHODS: We retrospectively investigated the patients who were involved in the previous epidemiological study and visited Okayama University Hospital for a period of 10years after December 31, 1999. RESULTS: Overall, there were 350 patients' medical records that were evaluated, and 258 patients with complete clinical information available for a 10-year period were enrolled...
November 12, 2016: Brain & Development
https://www.readbyqxmd.com/read/27846732/complete-mental-health-in-adult-siblings-of-those-with-a-chronic-illness-or-disability
#18
Madeleine Hallion, Amanda Taylor, Rachel Roberts
INTRODUCTION: Sibling relationships have lifelong significance and childhood chronic illness and disability can have considerable impacts on healthy siblings, influencing development into adulthood. Research has not yet assessed well-being in this population using measures of both mental health and mental illness. Thus, this study assessed well-being in a comprehensive manner using the complete mental health (CMH) model. METHOD: Participants (N = 144) included both adult siblings of those with chronic illness or disability and adults with healthy siblings...
November 16, 2016: Disability and Rehabilitation
https://www.readbyqxmd.com/read/27845310/-the-clinical-dynamics-of-mental-retardation-and-social-adaptation-of-patients-as-they-get-older
#19
O P Shmakova
AIM: To establish the patterns of social adaptation of patients with mental retardation (MR) as they get older in relation to the clinical dynamics of MR, to analyze the association between the formation of MR and factors and circumstances that determine the adaptive capacity of patients. MATERIAL AND METHODS: One hundred and eighty-seven patients with MR were followed-up from childhood to young adulthood (23-25 years old). The average duration of follow-up was 17...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27843003/-social-participation-after-childhood-craniopharyngioma
#20
C Olivari-Philiponnet, F Roumenoff, M Schneider, C Chantran, M Picot, P Berlier, C Mottolese, J-C Bernard, C Vuillerot
: Craniopharyngioma is a rare, benign central nervous system tumor, which may be a source of multiple complications, from endocrinology to vision, neurology and neurocognitive functions. This morbidity can lead to reduced participation in life activities, as described in the International Classification of Functioning, Disability, and Health. The primary objective of this study was to measure participation in life activities in a population of children and young adults affected by childhood craniopharyngioma, using the LIFE-H questionnaire (Assessment of Life Habits), validated as a social participation measurement tool in various pediatric disabilities...
November 10, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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