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https://www.readbyqxmd.com/read/28932609/neuromyelitis-optica-in-a-nepalese-man
#1
Yogesh Subedi, Utsav Joshi, Sanjeeb Sudarshan Bhandari, Ashbina Pokharel, Ashbita Pokharel
BACKGROUND: Neuromyelitis optica is a severely disabling inflammatory disorder of the central nervous system of autoimmune etiology that mainly affects the optic nerves and spinal cord. Here, we present a case report detailing a patient with tingling and weakness of right upper and lower limbs who was neuromyelitis optica immunoglobulin G-positive. CASE PRESENTATION: A 46-year-old Nepalese man presented to the hospital with a history of tingling and weakness of right upper and lower limbs that developed over a period of two months...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28930704/holding-ashley-x-bestowing-identity-through-caregiving-in-profound-intellectual-disability
#2
Lisa Freitag, Joan Liaschenko
The controversy over the so-called Ashley Treatment (AT), a series of medical procedures that inhibited both growth and sexual development in the body of a profoundly intellectually impaired girl, usually centers either on Ashley's rights, including a right to an intact, unaltered body, or on Ashley's parents' rights to make decisions for her. The claim made by her parents, that the procedure would improve their ability to care for her, is often dismissed as inappropriate or, at best, irrelevant. We argue, however, that caregiving is a central issue in the controversy, as Ashley's need for caregiving is a defining characteristic of her life...
2017: Journal of Clinical Ethics
https://www.readbyqxmd.com/read/28926593/target-directed-motor-imagery-of-the-lower-limb-enhances-event-related-desynchronization
#3
Kosuke Kitahara, Yoshikatsu Hayashi, Shiro Yano, Toshiyuki Kondo
Event-related desynchronization/synchronization (ERD/S) is an electroencephalogram (EEG) feature widely used as control signals for Brain-Computer Interfaces (BCIs). Nevertheless, the underlying neural mechanisms and functions of ERD/S are largely unknown, thus investigating them is crucial to improve the reliability of ERD/S-based BCIs. This study aimed to identify Motor Imagery (MI) conditions that enhance ERD/S. We investigated following three questions: 1) whether target-directed MI affects ERD/S, 2) whether MI with sound imagery affects ERD/S, and 3) whether ERD/S has a body part dependency of MI...
2017: PloS One
https://www.readbyqxmd.com/read/28926418/hemispheric-dominance-for-stereognosis-in-a-patient-with-an-infarct-of-the-left-postcentral-sensory-hand-area
#4
Jorge Moll, Ricardo de Oliveira-Souza
The concept of left hemispheric dominance for praxis, speech, and language has been one of the pillars of neurology since the mid-19th century. In 1906, Hermann Oppenheim reported a patient with bilateral stereoagnosia (astereognosis) caused by a left parietal lobe tumor and proposed that the left hemisphere was also dominant for stereognosis. Surprisingly, few cases of bilateral stereoagnosia caused by a unilateral cerebral lesion have been documented in the literature since then. Here we report a 75-year-old right-handed man who developed bilateral stereoagnosia after suffering a small infarct in the crown of the left postcentral gyrus...
September 2017: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://www.readbyqxmd.com/read/28926188/minimal-factor-xiii-activity-level-to-prevent-major-spontaneous-bleeds-reply
#5
M Menegatti, R Palla, P Bucciarelli, F Peyvandi
We thank Dr. Dorgalaleh et al. for their interest in our report regarding the minimal Factor XIII (FXIII) activity level to prevent major spontaneous bleedings [1] and for describing their experience using a low dose prophylaxis in patients with severe FXIII deficiency [2]. As reported by the authors, primary prophylaxis is mandatory for all patients with severe congenital FXIII deficiency, since the diagnosis, to prevent spontaneous life-threatening bleeding. It is well known that the main cause of death or disability in these patients is intracranial haemorrhage (ICH), occurring either spontaneously or after minor trauma, therefore an early prophylaxis is crucial [3]...
September 19, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28926154/brain-functional-connectome-abnormalities-in-als-are-associated-with-disability-and-cortical-hyperexcitability
#6
Nimeshan Geevasinga, Mayuresh S Korgaonkar, Parvathi Menon, Mehdi Van den Bos, Lavier Gomes, Sheryl Foster, Matthew C Kiernan, Steve Vucic
OBJECTIVE: The present study utilized a multimodality approach encompassing connectome network combined with brain volume analysis, and assessment of cortical excitability to provide novel insights into amyotrophic lateral sclerosis (ALS) pathogenesis. METHODS: Magnetic resonance images (MRI) were acquired using a 3.0 Tesla GE Signa HDx scanner, using an 8-channel head coil. MR images for the resting state scan were acquired using echo planar imaging MR sequence, acquiring 40 contiguous axial/oblique slices...
September 19, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28926145/a-crispr-reimagining-new-twists-and-turns-of-crispr-beyond-the-genome-engineering-revolution
#7
Robert J Plummer, Yi Guo, Ying Peng
Despite its explosive applications in genome engineering, CRISPR (Clustered Regularly Interspersed Short Palindromic Repeats) has been developed into a versatile tool beyond its well-known nuclease function. In this prospect article, we summarize a few exciting "off-label" applications of CRISPR including manipulating DNA sequences, visualizing chromosomal loci in living cells, and modulating transcription and chromatin structures. These novel applications will likely elevate CRISPR tools into yet another level of sophistication and diversity, leading to many more exciting cell biological discoveries...
September 19, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28926110/pacap-and-pac1r-are-differentially-expressed-in-motor-cortex-of-amyotrophic-lateral-sclerosis-patients-and-support-survival-of-ipsc-derived-motor-neurons
#8
Gabriele Bonaventura, Rosario Iemmolo, Agata Grazia D'Amico, Valentina La Cognata, Erminio Costanzo, Mario Zappia, Velia D'Agata, Francesca Luisa Conforti, Eleonora Aronica, Sebastiano Cavallaro
Amyotrophic lateral sclerosis (ALS) is a fatal and disabling neurodegenerative disease characterized by upper and lower motor neurons depletion. In our previous work, comprehensive genomic profiling of 41 motor cortex samples enabled to discriminate controls from sporadic ALS patients, and segregated these latter into two distinct subgroups (SALS1 and SALS2), each associated with different deregulated genes. In the present study, we focused our attention on two of them, Pituitary Adenylate Cyclase-Activating Polypeptide (PACAP) and its type 1 receptor (PAC1R), and validated the results of the transcriptome experiments by quantitative reverse transcription-polymerase chain reaction (qRT-PCR), immunohistochemistry and western blot analysis...
September 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28926091/functional-role-of-mesenchymal-stem-cells-in-the-treatment-of-chronic-neurodegenerative-diseases
#9
Debora Lo Furno, Giuliana Mannino, Rosario Giuffrida
Mesenchymal stem cells (MSCs) can differentiate into not only cells of mesodermal lineages, but also into endodermal and ectodermal derived elements, including neurons and glial cells. For this reason, MSCs have been extensively investigated to develop cell-based therapeutic strategies, especially in pathologies whose pharmacological treatments give poor results, if any. As in the case of irreversible neurological disorders characterized by progressive neuronal death, in which behavioral and cognitive functions of patients inexorably decline as the disease progresses...
September 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28925510/mir-30a-5p-ameliorates-spinal-cord-injury-induced-inflammatory-responses-and-oxidative-stress-by-targeting-neurod-1-through-mapk-erk-signaling
#10
Xiaodong Fu, Yi Shen, Weili Wang, Xiaomiao Li
Spinal cord injury (SCI) is a major disability requiring more effective treatment than is currently available. MicroRNAs have been shown to effectively regulate gene expression at the translational level. The aim of the present study was to explore the potential role of miR-30-5p and possible mechanism in SCI. We found that miR-30-5p was notably down-regulated, while Neurod 1 expression was highly elevated in microglia from the mouse model of SCI. Additionally, overexpression of miR-30a-5p significantly suppressed inflammatory responses as reflected by an decrease in the secretion of the cytokines TNF-α, IL-1β and IL-10 triggered by SCI...
September 19, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/28923519/disability-rights-in-higher-education-programs-the-case-of-medical-schools-and-other-health-related-disciplines
#11
Anastasia Liasidou, Katerina Mavrou
Recognising and respecting the human rights of persons with disabilities constitutes an integral element of a democratic society. This caveat has been long articulated in health professionals' rhetoric on the importance of embedding a human rights discourse in the protection and promotion of individual and global health. Having signed and ratified the International Convention on the Rights of Persons with Disabilities (UNCRPD), state parties are expected to educate doctors and other health professionals to understand the human rights dimension of disability...
September 8, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28923474/beyond-the-inhaled-nitric-oxide-in-persistent-pulmonary-hypertension-of-the-newborn
#12
REVIEW
Mei-Yin Lai, Shih-Ming Chu, Satyan Lakshminrusimha, Hung-Chih Lin
Persistent pulmonary hypertension (PPHN) is a consequence of failed pulmonary vascular transition at birth and leads to pulmonary hypertension with shunting of deoxygenated blood across the ductus arteriosus (DA) and foramen ovale (FO) resulting in severe hypoxemia, and it may eventually lead to life-threatening circulatory failure. PPHN is a serious event affecting both term and preterm infants in the neonatal intensive care unit. It is often associated with diseases such as congenital diaphragmatic hernia, meconium aspiration, sepsis, congenital pneumonia, birth asphyxia and respiratory distress syndrome...
August 10, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28922081/clinical-outcomes-following-conservative-management-of-chronic-traumatic-cervical-myelopathy-a-case-report
#13
Justin Bridges, Roberto Sandoval
BACKGROUND AND PURPOSE: There is limited evidence supporting the conservative management of patients with cervical myelopathy. The purpose of this report is to describe the intervention and outcomes of conservative physical therapy interventions for one patient with chronic cervical myelopathy. CASE DESCRIPTION: This case was a 50-year-old male who sustained a neck injury following a rear-end collision 4 years prior to this therapeutic episode. The patient presented with decreased range of motion in the cervical spine and right upper extremity, strength deficits, altered sensation, poor posture, and reported chronic cervical region pain and difficulty sleeping...
September 18, 2017: Physiotherapy Theory and Practice
https://www.readbyqxmd.com/read/28921656/animal-models-for-studying-the-etiology-and-treatment-of-low-back-pain
#14
REVIEW
Changgui Shi, Sujun Qiu, Scott M Riester, Vaskar Das, Bingqian Zhu, Atiyayein A Wallace, Andre J van Wijnen, Fackson Mwale, James C Iatridis, Daisuke Sakai, Gina Votta-Velis, Wen Yuan, Hee-Jeong Im
Chronic low back pain is a major cause of disability and health care costs. Effective treatments are inadequate for many patients. Animal models are essential to further understanding of the pain mechanism and testing potential therapies. Currently, a number of preclinical models have been developed attempting to mimic aspects of clinical conditions that contribute to low back pain. This review focused on describing these animal models and the main behavioral tests for assessing pain in each model. Animal models of low back pain can be divided into the following five categories: discogenic low back pain, radicular back pain, facet joint osteoarthritis back pain, muscle-induced low back pain, and spontaneous occurring low back pain models...
September 18, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28921453/upper-and-lower-limbs-composition-a-comparison-between-anthropometry-and-dual-energy-x-ray-absorptiometry-in-healthy-people
#15
Danila Diano, Federico Ponti, Sara Guerri, Daniele Mercatelli, Michele Amadori, Maria Pilar Aparisi Gómez, Giuseppe Battista, Giuseppe Guglielmi, Alberto Bazzocchi
The detection of changes in lean mass (LM) distribution can help to prevent disability. This study assessed the degree of association between anthropometric measurements and dual-energy X-ray absorptiometry (DXA) body composition (BC) parameters of the upper and lower limbs in a healthy general population and collected DXA age- and sex-specific values of BC that can be useful to build a reference standard. PURPOSE: The primary aim of this study was to investigate the reliability of some widely available anthropometric measurements in the assessment of body composition (BC) at the limbs, especially in terms of muscle mass, in a large sample of healthy subjects of different age bands and sex, using fat mass (FM) and lean mass (LM) parameters derived by dual-energy X-ray absorptiometry (DXA) as the gold standard...
September 18, 2017: Archives of Osteoporosis
https://www.readbyqxmd.com/read/28914487/illness-perceptions-explain-the-variance-in-functional-disability-but-not-habitual-physical-activity-in-patients-with-chronic-low-back-pain-a-cross-sectional-study
#16
Marijke Leysen, Jo Nijs, Paul Van Wilgen, Filip Struyf, Mira Meeus, Erik Fransen, Christophe Demoulin, Rob Smeets, Nathalie A Roussel
INTRODUCTION: Although the importance of psychosocial factors has been highlighted in many studies in patients with chronic low back pain (CLBP), there is a lack of research examining the role of illness perceptions in explaining functional disability and physical activity in patients with CLBP. AIM: The aim of the study was to explore the value of illness perceptions in explaining functional disability and physical activity in patients with CLBP. METHODS: Eighty-four participants with CLBP (> 3 months) completed a battery of questionnaires investigating psychosocial factors (pain catastrophizing scale (PCS), illness perceptions questionnaire revised (IPQ-R) and SF-36 mental health scale (SF-36_MH)) as well as the perceived pain intensity (VAS), Oswestry Disability Index (ODI) and Baecke questionnaire...
September 15, 2017: Pain Practice: the Official Journal of World Institute of Pain
https://www.readbyqxmd.com/read/28911338/organisational-culture-and-trust-as-influences-over-the-implementation-of-equity-oriented-policy-in-two-south-african-case-study-hospitals
#17
Ermin Erasmus, Lucy Gilson, Veloshnee Govender, Moremi Nkosi
BACKGROUND: This paper uses the concepts of organisational culture and organisational trust to explore the implementation of equity-oriented policies - the Uniform Patient Fee Schedule (UPFS) and Patients' Rights Charter (PRC) - in two South African district hospitals. It contributes to the small literatures on organisational culture and trust in low- and middle-income country health systems, and broader work on health systems' people-centeredness and "software". METHODS: The research entailed semi-structured interviews (Hospital A n = 115, Hospital B n = 80) with provincial, regional, district and hospital managers, as well as clinical and non-clinical hospital staff, hospital board members, and patients; observations of policy implementation, organisational functioning, staff interactions and patient-provider interactions; and structured surveys operationalising the Competing Values Framework for measuring organisational culture (Hospital A n = 155, Hospital B n = 77) and Organisational Trust Inventory (Hospital A n = 185, Hospital B n = 92) for assessing staff-manager trust...
September 15, 2017: International Journal for Equity in Health
https://www.readbyqxmd.com/read/28906575/prevalence-correlates-and-impact-of-pain-and-cramps-in-anti-mag-neuropathy-a-multicentre-european-study
#18
Yusuf A Rajabally, Emilien Delmont, Fu Liong Hiew, Anne-Catherine Aubé-Nathier, Aude-Marie Grapperon, Julien Cassereau, Shahram Attarian
BACKGROUND: The frequency of pain and cramps is uncertain in anti-MAG (Anti-myelin associated glycoprotein antibody) neuropathy. Whether these symptoms may affect function/quality of life is unknown. METHODS: We performed a cross-sectional study of the prevalence, correlates and impact of pain, pain subtypes and cramps, their severity, frequency and anatomical distribution, in 55 clinically stable patients with anti-MAG neuropathy. RESULTS: Pain of any type was reported by 80% of subjects...
September 14, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28905505/biallelic-variants-in-wars2-encoding-mitochondrial-tryptophanyl-trna-synthase-in-six-individuals-with-mitochondrial-encephalopathy
#19
Saskia B Wortmann, Sharita Timal, Hanka Venselaar, Liesbeth T Wintjes, Robert Kopajtich, René G Feichtinger, Carla Onnekink, Mareike Mühlmeister, Ulrich Brandt, Jan A Smeitink, Joris A Veltman, Wolfgang Sperl, Dirk Lefeber, Ger Pruijn, Vesna Stojanovic, Peter Freisinger, Francjan V Spronsen, Terry Gj Derks, Hermine E Veenstra-Knol, Johannes A Mayr, Agnes Rötig, Mark Tarnopolsky, Holger Prokisch, Richard J Rodenburg
Mitochondrial protein synthesis involves an intricate interplay between mitochondrial DNA encoded RNAs and nuclear DNA encoded proteins, such as ribosomal proteins and aminoacyl-tRNA synthases. Eukaryotic cells contain 17 mitochondria-specific aminoacyl-tRNA synthases. WARS2 encodes mitochondrial tryptophanyl-tRNA synthase (mtTrpRS), a homodimeric class Ic enzyme (mitochondrial tryptophan-tRNA ligase; EC 6.1.1.2). Here, we report six individuals from five families presenting with either severe neonatal onset lactic acidosis, encephalomyopathy and early death or a later onset, more attenuated course of disease with predominating intellectual disability...
September 14, 2017: Human Mutation
https://www.readbyqxmd.com/read/28901871/citizenship-and-learning-disabled-people-the-mental-health-charity-mind-s-1970s-campaign-in-historical%C3%A2-context
#20
Jonathan Toms
Current policy and practice directed towards people with learning disabilities originates in the deinstitutionalisation processes, civil rights concerns and integrationist philosophies of the 1970s and 1980s. However, historians know little about the specific contexts within which these were mobilised. Although it is rarely acknowledged in the secondary literature, MIND was prominent in campaigning for rights-based services for learning disabled people during this time. This article sets MIND's campaign within the wider historical context of the organisation's origins as a main institution of the inter-war mental hygiene movement...
October 2017: Medical History
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