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https://www.readbyqxmd.com/read/28546998/uniparental-disomy-determined-by-whole-exome-sequencing-in-a-spectrum-of-rare-motoneuron-diseases-and-ataxias
#1
Dana M Bis, Rebecca Schüle, Jennifer Reichbauer, Matthis Synofzik, Tim W Rattay, Anne Soehn, Peter de Jonghe, Ludger Schöls, Stephan Züchner
BACKGROUND: The genetic causes of many rare inherited motoneuron diseases and ataxias (MND and ATX) remain largely unresolved, especially for sporadic patients, despite tremendous advances in gene discovery. Whole exome data is often available for patients, but it is rarely evaluated for unusual inheritance patterns, such as uniparental disomy (UPD). UPD is the inheritance of two copies of a chromosomal region from one parent, which may generate homozygosity for a deleterious recessive variant from only one carrier-parent...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28532874/efficacy-of-kinesiology-tape-versus-postural-correction-exercises-on-neck-disability-and-axioscapular-muscles-fatigue-in-mechanical-neck-dysfunction-a-randomized-blinded-clinical-trial
#2
Aliaa M El-Abd, Abeer R Ibrahim, Haytham M El-Hafez
BACKGROUND: Mechanical neck dysfunction (MND), with axioscapular muscles fatigue, is highly prevalent worldwide. While postural correction is commonly used for its treatment, efficacy of kinesiology tape (KT) has received considerable attention. OBJECTIVES: To determine the effectiveness of KT versus correction exercises on neck disability, and axioscapular muscles fatigue in MND patients. METHODS: 46 MND patients were randomly assigned into 1 of 2 groups receiving 4 weeks treatment of either KT or correction exercises...
April 2017: Journal of Bodywork and Movement Therapies
https://www.readbyqxmd.com/read/28503469/motor-neuron-disease-presenting-with-acute-respiratory-failure-a-case-study
#3
Hyeonjun Oh, Seong Woong Kang, Won Ah Choi, Jang Woo Lee, Miri Suh, Eun Young Kim
Motor neuron diseases (MNDs) refer to a heterogeneous group of progressive neurologic disorders caused by degeneration of motor neurons. The diseases affect either the upper motor neurons, lower motor neurons, or both, and are characterized by weakness, atrophy, fasciculation, spasticity, and respiratory failure. We report a case of a 61-year-old male patient with no past history of cardiovascular or pulmonary disease, who presented with only dyspnea, and no indication of any other symptom such as muscle weakness, atrophy, or bulbar dysfunction...
April 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28502900/nuclear-morphometry-in-histological-specimens-of-canine-prostate-cancer-correlation-with-histological-subtypes-gleason-score-methods-of-collection-and-survival-time
#4
Guido Di Donato, Renée Laufer-Amorim, Chiara Palmieri
Ten normal prostates, 22 benign prostatic hyperplasia (BPH) and 29 prostate cancer (PC) were morphometrically analyzed with regard to mean nuclear area (MNA), mean nuclear perimeter (MNP), mean nuclear diameter (MND), coefficient of variation of the nuclear area (NACV), mean nuclear diameter maximum (MDx), mean nuclear diameter minimum (MDm), mean nuclear form ellipse (MNFe) and form factor (FF). The relationship between nuclear morphometric parameters and histological type, Gleason score, methods of sample collection, presence of metastases and survival time of canine PC were also investigated...
May 6, 2017: Research in Veterinary Science
https://www.readbyqxmd.com/read/28482893/decision-making-and-referral-processes-for-patients-with-motor-neurone-disease-a-qualitative-study-of-gp-experiences-and-evaluation-of-a-new-decision-support-tool
#5
Susan Baxter, Christopher J McDermott
BACKGROUND: The diagnosis of motor neurone disease (MND) is known to be challenging and there may be delay in patients receiving a correct diagnosis. This study investigated the referral process for patients who had been diagnosed with MND, and whether a newly-developed tool (The Red Flags checklist) might help General Practitioners (GPs) in making referral decisions. METHODS: We carried out interviews with GPs who had recently referred a patient diagnosed with MND, and interviews/surveys with GPs who had not recently referred a patient with suspected MND...
May 8, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28461025/amyotrophic-lateral-sclerosis-or-not-keys-for-the-diagnosis
#6
REVIEW
T Lenglet, J-P Camdessanché
Amyotrophic lateral sclerosis (ALS) is a degenerative motor neuron disease (MND) which prognosis is poor. Early diagnosis permit to set up immediately adapted treatment and cares. Available diagnostic criteria are based on the detection of both central and peripheral motor neuron injury in bulbar, cervical, thoracic and lumbar regions. Electrodiagnostic (EDX) tests are the key tools to identify peripheral motor neuron involvement. Needle examination records abnormal activities at rest, and looks for neurogenic pattern during muscle contraction...
April 28, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28446118/motor-neurone-disease-progress-and-challenges
#7
REVIEW
Thanuja Dharmadasa, Robert D Henderson, Paul S Talman, Richard Al Macdonell, Susan Mathers, David W Schultz, Merrillee Needham, Margaret Zoing, Steve Vucic, Matthew C Kiernan
Major progress has been made over the past decade in the understanding of motor neurone disease (MND), changing the landscape of this complex disease. Through identifying positive prognostic factors, new evidence-based standards of care have been established that improve patient survival, reduce burden of disease for patients and their carers, and enhance quality of life. These factors include early management of respiratory dysfunction with non-invasive ventilation, maintenance of weight and nutritional status, as well as instigation of a multidisciplinary team including neurologists, general practitioners and allied health professionals...
May 1, 2017: Medical Journal of Australia
https://www.readbyqxmd.com/read/28440863/fewdon-mnd-syndrome-finger-extension-weakness-and-downbeat-nystagmus-a-novel-motor-neuron-disorder
#8
Aline Delva, Nimish Thakore, Erik Pioro, Koen Poesen, Rachel Saunders-Pullman, Inge A Meijer, Janet C Rucker, John T Kissel, Philip Van Damme
Introduction Disturbances of eye movements are infrequently encountered in motor neuron diseases or motor neuropathies, and there is no known syndrome that combines progressive muscle weakness with downbeat nystagmus. Methods To describe the core clinical features of a syndrome of motor neuron disease associated with downbeat nystagmus, clinical features were collected from 6 patients. Results All patients had slowly progressive muscle weakness and wasting, in combination with downbeat nystagmus, which was clinically most obvious in downward and lateral gaze...
April 25, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28440098/early-diagnosis-of-amyotrophic-lateral-sclerosis-mimic-syndromes-pros-and-cons-of-current-clinical-diagnostic-criteria
#9
Elena Cortés-Vicente, Jesús Pradas, Juan Marín-Lahoz, Noemi De Luna, Jordi Clarimón, Janina Turon-Sans, Ellen Gelpí, Jordi Díaz-Manera, Isabel Illa, Ricard Rojas-Garcia
OBJECTIVE: To describe the frequency and clinical characteristics of patients referred to a tertiary neuromuscular clinic as having amyotrophic lateral sclerosis (ALS) but who were re-diagnosed as having an ALS mimic syndrome, and to identify the reasons that led to the revision of the diagnosis. METHODS: We reviewed the final diagnosis of all patients prospectively registered in the Sant Pau-MND register from 1 January 2004 to 31 December 2015. A detailed clinical evaluation and a clinically-guided electrophysiological study were performed at first evaluation...
April 25, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28431575/heterogeneous-ribonuclear-protein-a3-hnrnp-a3-is-present-in-dipeptide-repeat-protein-containing-inclusions-in-frontotemporal-lobar-degeneration-and-motor-neurone-disease-associated-with-expansions-in-c9orf72-gene
#10
Yvonne S Davidson, Louis Flood, Andrew C Robinson, Yoshihiro Nihei, Kohji Mori, Sara Rollinson, Anna Richardson, Bridget C Benson, Matthew Jones, Julie S Snowden, Stuart Pickering-Brown, Christian Haass, Tammaryn Lashley, David M A Mann
Frontotemporal Lobar Degeneration (FTLD) encompasses certain related neurodegenerative disorders which alter behaviour, personality and language. Heterogeneous ribonuclear proteins (hnRNPs) maintain RNA metabolism and changes in their function may underpin the pathogenesis of FTLD. Immunostaining for hnRNP A1, A2/B1 and A3 was performed on sections of temporal cortex with hippocampus from 61 patients with FTLD, stratified by pathological hallmarks into FTLD-tau and FTLD-TDP type A, B and C subtypes, and by genetics into patients with C9orf72 expansions, MAPT or GRN mutations, or those without known mutation...
April 21, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28429089/the-effectiveness-of-prophylactic-modified-neck-dissection-for-reducing-the-development-of-lymph-node-recurrence-of-papillary-thyroid-carcinoma
#11
Yasuhiro Ito, Akira Miyauchi, Takumi Kudo, Minoru Kihara, Mitsuhiro Fukushima, Akihiro Miya
AIM: The most frequent recurrence site of papillary thyroid carcinoma (PTC) is the cervical lymph nodes. The introduction of an electric linear probe for use with ultrasonography in 1996 improved preoperative lateral neck evaluations. Before 2006, however, our hospital routinely performed prophylactic modified neck dissection (p-MND) for N0 or N1a PTCs >1 cm to prevent node recurrence. In 2006, we changed our policy and the indications for p-MND to PTCs >3 cm and/or with significant extrathyroid extension...
April 20, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28419177/interpreting-patterns-of-low-scores-on-the-nih-toolbox-cognition-battery
#12
James A Holdnack, David S Tulsky, Brian L Brooks, Jerry Slotkin, Richard Gershon, Allen W Heinemann, Grant L Iverson
Introduction: The National Institutes of Health Toolbox for Assessment of Neurological and Behavioral Function Cognition Battery is comprised of seven cognitive tests, including two tests measuring crystallized cognitive ability (i.e., vocabulary and reading) and five tests measuring fluid cognitive functioning (i.e., working memory, memory, speed of processing, and executive functioning). This study presents comprehensive base rate tables for the frequency of low scores in adults and older adults from the normative sample...
April 17, 2017: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/28393008/an-unusual-cause-of-ventilatory-failure-in-motor-neurone-disease
#13
Epaminondas Markos Valsamis, Ian Smith, Adri De Sousa
A patient previously diagnosed with motor neurone disease (MND) and gastrostomy-fed was under surveillance for ventilatory decline via our respiratory centre. At a planned review she was found to be hypercapnic, which would usually prompt an offer of non-invasive ventilation for home use. However, she was alkalotic and not acidotic as we might expect. Her serum potassium was checked urgently and confirmed as low. It was established that the community team had prescribed a feeding regime with insufficient potassium...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28388674/variation-in-the-mineral-element-concentration-of-moringa-oleifera-lam-and-m-stenopetala-bak-f-cuf-role-in-human-nutrition
#14
Diriba B Kumssa, Edward Jm Joy, Scott D Young, David W Odee, E Louise Ander, Martin R Broadley
BACKGROUND: Moringa oleifera (MO) and M. stenopetala (MS) (family Moringaceae; order Brassicales) are multipurpose tree/shrub species. They thrive under marginal environmental conditions and produce nutritious edible parts. The aim of this study was to determine the mineral composition of different parts of MO and MS growing in their natural environments and their potential role in alleviating human mineral micronutrient deficiencies (MND) in sub-Saharan Africa. METHODS: Edible parts of MO (n = 146) and MS (n = 50), co-occurring cereals/vegetables and soils (n = 95) underneath their canopy were sampled from localities in southern Ethiopia and Kenya...
2017: PloS One
https://www.readbyqxmd.com/read/28387447/withdrawn-interventions-for-fatigue-and-weight-loss-in-adults-with-advanced-progressive-illness
#15
REVIEW
Cathy Payne, Philip J Wiffen, Suzanne Martin
BACKGROUND: Fatigue and unintentional weight loss are two of the commonest symptoms experienced by people with advanced progressive illness. Appropriate interventions may bring considerable improvements in function and quality of life to seriously ill people and their families, reducing physical, psychological and spiritual distress. OBJECTIVES: To conduct an overview of the evidence available on the efficacy of interventions used in the management of fatigue and/or unintentional weight loss in adults with advanced progressive illness by reviewing the evidence contained within Cochrane reviews...
April 7, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28387141/nationwide-incidence-of-motor-neuron-disease-using-the-french-health-insurance-information-system-database
#16
Sofiane Kab, Frédéric Moisan, Pierre-Marie Preux, Benoît Marin, Alexis Elbaz
OBJECTIVE: There are no estimates of the nationwide incidence of motor neuron disease (MND) in France. We used the French health insurance information system to identify incident MND cases (2012-2014), and compared incidence figures to those from three external sources. METHODS: We identified incident MND cases (2012-2014) based on three data sources (riluzole claims, hospitalisation records, long-term chronic disease benefits), and computed MND incidence by age, gender, and geographic region...
April 7, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28346229/clinical-efficacy-of-gene-modified-stem-cells-in-adenosine-deaminase-deficient-immunodeficiency
#17
Kit L Shaw, Elizabeth Garabedian, Suparna Mishra, Provaboti Barman, Alejandra Davila, Denise Carbonaro, Sally Shupien, Christopher Silvin, Sabine Geiger, Barbara Nowicki, E Monika Smogorzewska, Berkley Brown, Xiaoyan Wang, Satiro de Oliveira, Yeong Choi, Alan Ikeda, Dayna Terrazas, Pei-Yu Fu, Allen Yu, Beatriz Campo Fernandez, Aaron R Cooper, Barbara Engel, Greg Podsakoff, Arumugam Balamurugan, Stacie Anderson, Linda Muul, G Jayashree Jagadeesh, Neena Kapoor, John Tse, Theodore B Moore, Ken Purdy, Radha Rishi, Kathey Mohan, Suzanne Skoda-Smith, David Buchbinder, Roshini S Abraham, Andrew Scharenberg, Otto O Yang, Kenneth Cornetta, David Gjertson, Michael Hershfield, Rob Sokolic, Fabio Candotti, Donald B Kohn
BACKGROUND: Autologous hematopoietic stem cell transplantation (HSCT) of gene-modified cells is an alternative to enzyme replacement therapy (ERT) and allogeneic HSCT that has shown clinical benefit for adenosine deaminase-deficient (ADA-deficient) SCID when combined with reduced intensity conditioning (RIC) and ERT cessation. Clinical safety and therapeutic efficacy were evaluated in a phase II study. METHODS: Ten subjects with confirmed ADA-deficient SCID and no available matched sibling or family donor were enrolled between 2009 and 2012 and received transplantation with autologous hematopoietic CD34+ cells that were modified with the human ADA cDNA (MND-ADA) γ-retroviral vector after conditioning with busulfan (90 mg/m2) and ERT cessation...
May 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28344987/safe-and-effective-gene-therapy-for-murine-wiskott-aldrich-syndrome-using-an-insulated-lentiviral-vector
#18
Swati Singh, Iram Khan, Socheath Khim, Brenda Seymour, Karen Sommer, Matthew Wielgosz, Zachary Norgaard, Hans-Peter Kiem, Jennifer Adair, Denny Liggitt, Arthur Nienhuis, David J Rawlings
Wiskott-Aldrich syndrome (WAS) is a life-threatening immunodeficiency caused by mutations within the WAS gene. Viral gene therapy to restore WAS protein (WASp) expression in hematopoietic cells of patients with WAS has the potential to improve outcomes relative to the current standard of care, allogeneic bone marrow transplantation. However, the development of viral vectors that are both safe and effective has been problematic. While use of viral transcriptional promoters may increase the risk of insertional mutagenesis, cellular promoters may not achieve WASp expression levels necessary for optimal therapeutic effect...
March 17, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28343865/regulatory-role-of-rna-chaperone-tdp-43-for-rna-misfolding-and-repeat-associated-translation-in-sca31
#19
Taro Ishiguro, Nozomu Sato, Morio Ueyama, Nobuhiro Fujikake, Chantal Sellier, Akemi Kanegami, Eiichi Tokuda, Bita Zamiri, Terence Gall-Duncan, Mila Mirceta, Yoshiaki Furukawa, Takanori Yokota, Keiji Wada, J Paul Taylor, Christopher E Pearson, Nicolas Charlet-Berguerand, Hidehiro Mizusawa, Yoshitaka Nagai, Kinya Ishikawa
Microsatellite expansion disorders are pathologically characterized by RNA foci formation and repeat-associated non-AUG (RAN) translation. However, their underlying pathomechanisms and regulation of RAN translation remain unknown. We report that expression of expanded UGGAA (UGGAAexp) repeats, responsible for spinocerebellar ataxia type 31 (SCA31) in Drosophila, causes neurodegeneration accompanied by accumulation of UGGAAexp RNA foci and translation of repeat-associated pentapeptide repeat (PPR) proteins, consistent with observations in SCA31 patient brains...
April 5, 2017: Neuron
https://www.readbyqxmd.com/read/28328547/predictors-and-impact-of-self-reported-suboptimal-effort-on-estimates-of-prevalence-of-hiv-associated-neurocognitive-disorders
#20
Andrew J Levine, Eileen Martin, Ned Sacktor, Cynthia Munro, James Becker
BACKGROUND: Prevalence estimates of HIV-associated neurocognitive disorders (HAND) may be inflated. Estimates are determined via cohort studies in which participants may apply suboptimal effort on neurocognitive testing, thereby inflating estimates. Additionally, fluctuating HAND severity over time may be related to inconsistent effort. To address these hypotheses, we characterized effort in the Multicenter AIDS Cohort Study. METHODS: After neurocognitive testing, 935 participants (525 HIV- and 410 HIV+) completed the visual analog effort scale (VAES), rating their effort from 0% to 100%...
June 1, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
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