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https://www.readbyqxmd.com/read/28432997/serum-uric-acid-level-is-linked-to-the-disease-progression-rate-in-male-patients-with-multiple-system-atrophy
#1
Jiro Fukae, Shinsuke Fujioka, Shosaburo Yanamoto, Akio Mori, Takahiro Nomi, Taku Hatano, Kousuke Fukuhara, Shinji Ouma, Nobutaka Hattori, Yoshio Tsuboi
OBJECTIVES: Multiple system atrophy (MSA) is a progressive neurodegenerative disorder that may be caused in part by oxidative stress. Uric acid (UA) protects neurons in neurodegenerative disorders via antioxidative effects. The aim of this study was to investigate the relationship between the serum UA concentration and disease progression in MSA patients. PATIENTS AND METHODS: A total of 53 Japanese MSA patients were enrolled in this study. The disease progression rate was estimated by the rate of global disability scale change per year...
April 3, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28432919/synthesis-fluorescence-sensing-and-molecular-logic-of-two-water-soluble-1-8-naphthalimides
#2
Nikolai I Georgiev, Margarita D Dimitrova, Anelia Ts Mavrova, Vladimir B Bojinov
Two novel highly water-soluble fluorescence sensing 1,8-naphthalimides are synthesized and investigated. The novel compounds are designed on the "fluorophore-receptor1-spacer-receptor2" model as a molecular fluorescence probe for determination of cations and anions in 100% aqueous media. The novel probes comprising N-imide and N-phenylpiperazine or morpholine substituents are capable to operate simultaneously via ICT and PET signaling mechanism as a function of pH and to recognize selectively Cu(2+) and Hg(2+) over the other representative metal ions...
April 18, 2017: Spectrochimica Acta. Part A, Molecular and Biomolecular Spectroscopy
https://www.readbyqxmd.com/read/28432893/optimism-and-benefit-finding-in-parents-of-children-with-developmental-disabilities-the-role-of-positive-reappraisal-and-social-support
#3
Éadaoin Slattery, Jennifer McMahon, Stephen Gallagher
BACKGROUND: Researchers have consistently documented the relationship between optimism and benefit finding; however, there is a dearth of research on the psychological mechanisms mediating their association. AIM: This cross-sectional study sought to elucidate the mediating role of positive reappraisal and social support in the optimism-benefit finding relationship in parents caring for children with developmental disabilities by testing a parallel multiple mediation model...
April 19, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28432728/expansion-of-the-clinical-phenotype-of-the-distal-10q26-3-deletion-syndrome-to-include-ataxia-and-hyperemia-of-the-hands-and-feet
#4
Melanie Lacaria, Myriam Srour, Jacques L Michaud, Asif Doja, Elka Miller, Jeremy Schwartzentruber, Claire Goldsmith, Jacek Majewski, Kym M Boycott
Distal deletion of the long arm of chromosome 10 is associated with a dysmorphic craniofacial appearance, microcephaly, behavioral issues, developmental delay, intellectual disability, and ocular, urogenital, and limb abnormalities. Herein, we present clinical, molecular, and cytogenetic investigations of four patients, including two siblings, with nearly identical terminal deletions of 10q26.3, all of whom have an atypical presentation of this syndrome. Their prominent features include ataxia, mild-to-moderate intellectual disability, and hyperemia of the hands and feet, and they do not display many of the other features commonly associated with deletions of this region...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28432687/impact-of-caring-for-patients-with-severe-and-complex-disabilities-on-health-care-workers-quality-of-life-determinants-and-specificities
#5
Marie-Christine Rousseau, Karine Baumstarck, Tanguy Leroy, Cherazad Khaldi-Cherif, Catherine Brisse, Laurent Boyer, Noémie Resseguier, Claire Morando, Thierry Billette De Villemeur, Pascal Auquier
AIM: Individuals with severe and complex disabilities, defined by a combination of profound intellectual impairment and serious motor deficit resulting in extreme dependence, often remain in hospital or at residential facilities. The aim of this study was to identify the determinants of quality of life (QoL) of 238 health care workers (HCWs) caring for individuals with severe and complex disabilities. METHOD: We conducted a cross-sectional study. The recruitment of the HCWs was performed in five French centres specializing in patients with severe and complex disabilities...
April 22, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28432603/immunoprophylaxis-of-multi-antigen-peptide-map-vaccine-for-human-lymphatic-filariasis
#6
Christiana Immanuel, Aparnaa Ramanathan, Malathi Balasubramaniyan, Vishal Kishor Khatri, Nitin Purushottam Amdare, Donthamsetty Nageswara Rao, Maryada Venkata Rami Reddy, Kaliraj Perumal
Human lymphatic filariasis, the parasitic disease caused by the filarial nematodes Wuchereria bancrofti, Brugia malayi, and Brugia timori, is ranked as the second most complex clinical condition leading to permanent and long-term disability. The multiple antigen peptide (MAP) approach is an effective method to chemically synthesize and deliver multiple T and B cell epitopes as the constituents of a single immunogen. Here, we report on the design, chemical synthesis, and immunoprophylaxis of three epitopes that have been identified from promising vaccine candidates reported in our previous studies, constructed as MAP on an inert lysine core for human lymphatic filariasis in Jird model...
April 21, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28432518/correlation-between-heavy-metal-exposure-and-gstm1-polymorphism-in-iranian-multiple-sclerosis-patients
#7
Mehdi Aliomrani, Mohammad A Sahraian, Hamid Shirkhanloo, Mohammad Sharifzadeh, Mohammad R Khoshayand, Mohammad H Ghahremani
Multiple sclerosis (MS) is an immune-mediated chronic inflammatory disease of the central nervous system. Various exposures to heavy metals can lead to toxicity and oxidative stress. While glutathione-S-transferases are known as oxidative stress-related genes and involved in metal biotransformation. The aim of the present study is to investigate the correlation of GSTM1 polymorphism in MS patients and the possible association with blood concentration of arsenic (As) and cadmium (Cd) as major heavy metal pollutants...
April 21, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28432185/exogenous-cushing-s-syndrome-due-to-a-chinese-herbalist-s-prescription-of-ointment-containing-dexamethasone
#8
Viola Franke, Winnie Francien Scholtens, Ines Alexandra von Rosenstiel, Marie Jose Walenkamp
Eczema in children is a chronic disabling condition. The impact of this condition on the lives of families is often underestimated by conventional physicians. As a consequence parents may investigate complementary treatment options. Close monitoring by a paediatrician is essential, considering that a variety of adverse effects can occur during the use of complementary treatment. We present a 5-year-old girl with eczema. She visited a Chinese herbalist who prescribed an ointment. The parents noticed that the eczema resolved fast, itching decreased and she was finally sleeping well...
April 20, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28432141/the-spacing-effect-for-structural-synaptic-plasticity-provides-specificity-and-precision-in-plastic-changes
#9
Martin A San, L Rela, B D Gelb, M R Pagani
In contrast to trials of training without intervals (massed training), training trials spaced over time (spaced training) induce a more persistent memory identified as long-term memory (LTM). This phenomenon known as "the spacing effect for memory" is poorly understood. LTM is supported by structural synaptic plasticity; however, how synapses integrate spaced stimuli remains elusive. Here, we analyzed events of structural synaptic plasticity at the single synapse level after distinct patterns of stimulation in motoneurons of Drosophila We found that the spacing effect is a phenomenon detected at synaptic level, which determine the specificity and the precision in structural synaptic plasticity...
April 21, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28432085/acute-myeloid-leukaemia-in-a-case-with-tatton-brown-rahman-syndrome-the-peculiar-dnmt3a-r882-mutation
#10
Iris H I M Hollink, Ans M W van den Ouweland, H Berna Beverloo, Susan T C J M Arentsen-Peters, C Michel Zwaan, Anja Wagner
BACKGROUND: Recently a novel syndromic form of overgrowth with intellectual disability and distinct facial features was identified caused by constitutional mutations in the epigenetic regulator DNA-methyltransferase 3A (DNMT3A), referred to as Tatton-Brown-Rahman syndrome (TBRS). Somatically acquired mutations in DNMT3A occur in haematological malignancies and are frequently present in acute myeloid leukaemia (AML) affecting in more than 50% the arginine residue at position 882 (R882)...
April 21, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28431989/live-birth-miscarriage-and-abortion-among-u-s-women-with-and-without-disabilities
#11
Willi Horner-Johnson, Sheetal Kulkarni-Rajasekhara, Blair G Darney, Mekhala Dissanayake, Aaron B Caughey
BACKGROUND: Prior studies have found that women with disabilities who give birth are more likely to have preterm deliveries and low birthweight infants. However, it is not known what proportion of pregnant women with disabilities experience live birth, versus miscarriage or abortion. OBJECTIVE: To compare proportions of live birth, miscarriage, and abortion among women with basic action difficulties, women with complex activity limitations, and women without disabilities in a nationally representative sample...
April 6, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/28431988/time-trends-in-births-and-cesarean-deliveries-among-women-with-disabilities
#12
Willi Horner-Johnson, Frances M Biel, Blair G Darney, Aaron B Caughey
BACKGROUND: Although it is likely that childbearing among women with disabilities is increasing, no empirical data have been published on changes over time in the numbers of women with disabilities giving birth. Further, while it is known that women with disabilities are at increased risk of cesarean delivery, temporal trends in cesarean deliveries among women with disabilities have not been examined. OBJECTIVE: To assess time trends in births by any mode and in primary cesarean deliveries among women with physical, sensory, or intellectual/developmental disabilities...
April 6, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/28431899/validation-of-the-fact-b-4-ul-questionnaire-and-exploration-of-its-predictive-value-in-women-submitted-to-surgery-for-breast-cancer
#13
Juan Alfonso Andrade Ortega, Ana Pilar Millán Gómez, Marisa Ribeiro González, Pilar Martínez Piró, Juan Jiménez Anula, María Belén Sánchez Andújar
INTRODUCTION AND OBJETIVE: The early detection of upper limb complications is important in women operated on for breast cancer. The "FACT-B+4-UL" questionnaire, a specific variant of the Functional Assessment of Cancer Therapy-Breast (FACT-B) is available among others to measure the upper limb function. PATIENTS AND METHODS: The Spanish version of the upper limb subscale of the FACT-B+4 was validated in a prospective cohort of 201 women operated on for breast cancer (factor analysis, internal consistency, test-retest reliability, construct validity and sensitivity to change were determined)...
April 18, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28431841/cognitive-profile-and-disorders-affecting-higher-brain-functions-in-paediatric-patients-with-neurofibromatosis-type-1
#14
E Vaucheret Paz, A López Ballent, C Puga, M J García Basalo, F Baliarda, C Ekonen, R Ilari, G Agosta
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients. OBJECTIVE: The purpose of our study is two-fold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Second, we identified the reasons for consultation associated with school performance in these patients...
April 18, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28431609/benefit-risk-perception-of-natalizumab-therapy-in-neurologists-and-a-large-cohort-of-multiple-sclerosis-patients
#15
Christoph Heesen, Ingo Kleiter, Sven G Meuth, Julia Krämer, Jürgen Kasper, Sascha Köpke, Wolfgang Gaissmaier
BACKGROUND: Natalizumab (NAT) is associated with the risk of progressive multifocal leukoencephalopathy (PML). Risk stratification algorithms have been developed, however, without detectable reduction of PML incidence. OBJECTIVE: To evaluate to which extent patients and physicians understand and accept risks associated with NAT treatment. METHODS: Prospective observational cohort study in German MS centers (n=73) among NAT-treated MS patients (n=801) and their neurologists (n=99)...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28431587/psychometric-properties-of-the-sdm-q-9-questionnaire-for-shared-decision-making-in-multiple-sclerosis-item-response-theory-modelling-and-confirmatory-factor-analysis
#16
Javier Ballesteros, Ester Moral, Luis Brieva, Elena Ruiz-Beato, Daniel Prefasi, Jorge Maurino
BACKGROUND: Shared decision-making is a cornerstone of patient-centred care. The 9-item Shared Decision-Making Questionnaire (SDM-Q-9) is a brief self-assessment tool for measuring patients' perceived level of involvement in decision-making related to their own treatment and care. Information related to the psychometric properties of the SDM-Q-9 for multiple sclerosis (MS) patients is limited. The objective of this study was to assess the performance of the items composing the SDM-Q-9 and its dimensional structure in patients with relapsing-remitting MS...
April 22, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28431511/validation-of-the-short-version-of-the-10-66-dementia-diagnosis-in-multiethnic-asian-older-adults-in-singapore
#17
Edimansyah Abdin, Janhavi Ajit Vaingankar, Louisa Picco, Boon Yiang Chua, Martin Prince, Siow Ann Chong, Mythily Subramaniam
BACKGROUND: To validate the short version of the 10/66 dementia diagnosis against the standard version of the 10/66 dementia diagnosis and clinical diagnosis and examine concurrent validity with the World Health Organisation Disability Assessment schedule and care needs in a multiethnic Asian older adult population in Singapore. METHODS: Data from the Well-being of the Singapore Elderly study, a nationally representative survey of the older Singapore Resident population aged 60 years and above was used...
April 21, 2017: BMC Geriatrics
https://www.readbyqxmd.com/read/28431489/apathy-in-amyotrophic-lateral-sclerosis-insights-from-dimensional-apathy-scale
#18
Gabriella Santangelo, Mattia Siciliano, Luigi Trojano, Cinzia Femiano, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Francesca Trojsi
OBJECTIVES: Apathy is associated with cognitive decline and worse survival in amyotrophic lateral sclerosis (ALS); an accurate evaluation of this aspect is relevant in clinical settings. The aims of this study are to evaluate the prevalence of apathy in a large ALS sample, using published diagnostic criteria, and to explore the psychometric properties, the sensitivity and the specificity of the Dimensional Apathy Scale (DAS) as a screening tool for apathy. METHODS: One hundred and thirty-one patients underwent clinical interview based on diagnostic criteria for apathy, DAS, Apathy Evaluation Scale, and assessment of depression, global cognitive functioning, and non-verbal intelligence...
April 21, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28431488/core-vocabulary-of-young-children-with-down-syndrome
#19
Stijn R J M Deckers, Yvonne Van Zaalen, Hans Van Balkom, Ludo Verhoeven
The aim of this study was to develop a core vocabulary list for young children with intellectual disabilities between 2 and 7 years of age because data from this population are lacking in core vocabulary literature. Children with Down syndrome are considered one of the most valid reference groups for researching developmental patterns in children with intellectual disabilities; therefore, spontaneous language samples of 30 Dutch children with Down syndrome were collected during three different activities with multiple communication partners (free play with parents, lunch- or snack-time at home or at school, and speech therapy sessions)...
June 2017: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/28431307/identifying-longitudinal-sustainable-hierarchies-in-activities-of-daily-living
#20
Roger Watson, Alvisa Palese, Ranieri Zuttion, Barbara Ferrario, Sandra Ponta, Mark Hayter
Activities of daily living serve as an indicator of progression in disability and rehabilitation. It is know that some of the measurement scales used show hierarchical properties indicating that activities of daily living are lost and gained in a consistent pattern. Few studies have investigated the extent to which these patterns are sustained across time and across a range of disability. The study aimed to investigate the hierarchical properties of the activity of daily living items in the ValGraf functional ability scale, to establish if there is a hierarchy of items in the scale and to study the sustainability of the hierarchy over time...
April 12, 2017: Archives of Gerontology and Geriatrics
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