keyword
MENU ▼
Read by QxMD icon Read
search

multie system atrophy

keyword
https://www.readbyqxmd.com/read/27894243/spinal-muscular-atrophy-more-than-a-disease-of-motor-neurons
#1
L A Nash, J K Burns, J W Chardon, R Kothary, R J Parks
Spinal muscular atrophy (SMA) is the most common genetically inherited neurodegenerative disease resulting in infant mortality. SMA is caused by genetic deletion or mutation in the survival motor neuron 1 (SMN1) gene, which results in reduced levels of the survival of motor neuron (SMN) protein. SMN protein deficiency preferentially affects α- motor neurons, leading to their degeneration and subsequent atrophy of limb and trunk muscles, progressing to death in severe forms of the disease. More recent studies have shown that SMN protein depletion is detrimental to the functioning of other tissues including skeletal muscle, heart, autonomic and enteric nervous systems, metabolic/endocrine (e...
November 28, 2016: Current Molecular Medicine
https://www.readbyqxmd.com/read/27789416/compound-heterozygous-variants-in-nbas-as-a-cause-of-atypical-osteogenesis-imperfecta
#2
M Balasubramanian, J Hurst, S Brown, N J Bishop, P Arundel, C DeVile, R C Pollitt, L Crooks, D Longman, J F Caceres, F Shackley, S Connolly, J H Payne, A C Offiah, D Hughes, M J Parker, W Hide, T M Skerry
BACKGROUND: Osteogenesis imperfecta (OI), the commonest inherited bone fragility disorder, affects 1 in 15,000 live births resulting in frequent fractures and reduced mobility, with significant impact on quality of life. Early diagnosis is important, as therapeutic advances can lead to improved clinical outcome and patient benefit. REPORT: Whole exome sequencing in patients with OI identified, in two patients with a multi-system phenotype, compound heterozygous variants in NBAS (neuroblastoma amplified sequence)...
January 2017: Bone
https://www.readbyqxmd.com/read/27783098/-degenerative-cerebellar-diseases-and-differential-diagnoses
#3
W Reith, S Roumia, P Dietrich
CLINICAL/METHODICAL ISSUE: Cerebellar syndromes result in distinct clinical symptoms, such as ataxia, dysarthria, dysmetria, intention tremor and eye movement disorders. STANDARD RADIOLOGICAL METHODS: In addition to the medical history and clinical examination, imaging is particularly important to differentiate other diseases, such as hydrocephalus and multi-infarct dementia from degenerative cerebellar diseases. Degenerative diseases with cerebellar involvement include Parkinson's disease, multiple system atrophy as well as other diseases including spinocerebellar ataxia...
October 25, 2016: Der Radiologe
https://www.readbyqxmd.com/read/27720545/infectious-bacterial-pathogens-parasites-and-pathological-correlations-of-sewage-pollution-as-an-important-threat-to-farmed-fishes-in-egypt
#4
Mahmoud A Mahmoud, Mohamed Abdelsalam, Olfat A Mahdy, Hala M F El Miniawy, Zakia A M Ahmed, Ahmed H Osman, Hussein M H Mohamed, A M Khattab, M A Zaki Ewiss
This paper is a part of a multi-disciplinary research "Application of Decentralized On-Site Water Treatment System in Egypt for Use in Agriculture and Producing Safe Fish and Animal Proteins". The project aimed to investigate the environmental impact of implementing sewage water before and after treatment using the effluent of the on-site decentralized Japanese' Johkasou system, in agriculture and producing fish protein. The aim is to establish such system in Egypt to strengthen the sanitary conditions of water resources...
October 6, 2016: Environmental Pollution
https://www.readbyqxmd.com/read/27597528/search-for-sca2-blood-rna-biomarkers-highlights-ataxin-2-as-strong-modifier-of-the-mitochondrial-factor-pink1-levels
#5
Nesli Ece Sen, Jessica Drost, Suzana Gispert, Sylvia Torres-Odio, Ewa Damrath, Michael Klinkenberg, Hamid Hamzeiy, Gülden Akdal, Halil Güllüoğlu, A Nazlı Başak, Georg Auburger
Ataxin-2 (ATXN2) polyglutamine domain expansions of large size result in an autosomal dominantly inherited multi-system-atrophy of the nervous system named spinocerebellar ataxia type 2 (SCA2), while expansions of intermediate size act as polygenic risk factors for motor neuron disease (ALS and FTLD) and perhaps also for Levodopa-responsive Parkinson's disease (PD). In view of the established role of ATXN2 for RNA processing in periods of cell stress and the expression of ATXN2 in blood cells such as platelets, we investigated whether global deep RNA sequencing of whole blood from SCA2 patients identifies a molecular profile which might serve as diagnostic biomarker...
September 3, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27357350/the-superficial-white-matter-in-temporal-lobe-epilepsy-a-key-link-between-structural-and-functional-network-disruptions
#6
Min Liu, Boris C Bernhardt, Seok-Jun Hong, Benoit Caldairou, Andrea Bernasconi, Neda Bernasconi
Drug-resistant temporal lobe epilepsy is increasingly recognized as a system-level disorder affecting the structure and function of large-scale grey matter networks. While diffusion magnetic resonance imaging studies have demonstrated deep fibre tract alterations, the superficial white matter immediately below the cortex has so far been neglected despite its proximity to neocortical regions and key role in maintaining cortico-cortical connectivity. Using multi-modal 3 T magnetic resonance imaging, we mapped the topography of superficial white matter diffusion alterations in 61 consecutive temporal lobe epilepsy patients relative to 38 healthy controls and studied the relationship to large-scale structural as well as functional networks...
September 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27318155/differentiation-of-control-and-als-mutant-human-ipscs-into-functional-skeletal-muscle-cells-a-tool-for-the-study-of-neuromuscolar-diseases
#7
Jessica Lenzi, Francesca Pagani, Riccardo De Santis, Cristina Limatola, Irene Bozzoni, Silvia Di Angelantonio, Alessandro Rosa
Amyotrophic Lateral Sclerosis (ALS) is a severe and fatal neurodegenerative disease characterized by progressive loss of motoneurons, muscle atrophy and paralysis. Recent evidence suggests that ALS should be considered as a multi-systemic disease, in which several cell types contribute to motoneuron degeneration. In this view, mutations in ALS linked genes in other neural and non-neural cell types may exert non-cell autonomous effects on motoneuron survival and function. Induced Pluripotent Stem Cells (iPSCs) have been recently derived from several patients with ALS mutations and it has been shown that they can generate motoneurons in vitro, providing a valuable tool to study ALS...
July 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27141113/difficult-mask-ventilation-made-easy-three-cases-of-parry-romberg-syndrome
#8
Kavitha Jayaram, Indira Gurajala, Gopinath Ramachandran
Parry Romberg syndrome presenting as hemifacial atrophy poses various perioperative problems due to multi-system involvement. These patients have several anaesthetic implications which are published as case reports. In spite of several case reports, airway issues associated with this disease is under-discussed. This report of three cases discusses airway difficulties and the multiple methods to tackle them in an easier way by focussing concentration on airway assessment and appropriate preoperative planning...
April 2016: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/27098666/multiple-system-atrophy-pathogenic-mechanisms-and-biomarkers
#9
REVIEW
Kurt A Jellinger, Gregor K Wenning
Multiple system atrophy (MSA) is a unique proteinopathy that differs from other α-synucleinopathies since the pathological process resulting from accumulation of aberrant α-synuclein (αSyn) involves the oligodendroglia rather than neurons, although both pathologies affect multiple parts of the brain, spinal cord, autonomic and peripheral nervous system. Both the etiology and pathogenesis of MSA are unknown, although animal models have provided insight into the basic molecular changes of this disorder. Accumulation of aberrant αSyn in oligodendroglial cells and preceded by relocation of p25α protein from myelin to oligodendroglia results in the formation of insoluble glial cytoplasmic inclusions that cause cell dysfunction and demise...
June 2016: Journal of Neural Transmission
https://www.readbyqxmd.com/read/27093692/acoustic-characteristics-of-stridor-in-multiple-system-atrophy
#10
Dae Lim Koo, Jee Young Lee, Eun Yeon Joo, Seung Bong Hong, Hyunwoo Nam
Nocturnal stridor is a breathing disorder prevalent in patients with multiple system atrophy (MSA). An improved understanding of this breathing disorder is essential since nocturnal stridor carries a poor prognosis (an increased risk of sudden death). In this study, we aimed to classify types of stridor by sound analysis and to reveal their clinical significance. Patients who met the criteria for probable MSA and had undergone polysomnography (PSG) were recruited. Patients were then assessed clinically with sleep questionnaires, including the Pittsburgh Sleep Quality Index, and the Hoehn and Yahr scale...
2016: PloS One
https://www.readbyqxmd.com/read/26860754/stat3-in-the-systemic-inflammation-of-cancer-cachexia
#11
REVIEW
Teresa A Zimmers, Melissa L Fishel, Andrea Bonetto
Weight loss is diagnostic of cachexia, a debilitating syndrome contributing mightily to morbidity and mortality in cancer. Most research has probed mechanisms leading to muscle atrophy and adipose wasting in cachexia; however cachexia is a truly systemic phenomenon. Presence of the tumor elicits an inflammatory response and profound metabolic derangements involving not only muscle and fat, but also the hypothalamus, liver, heart, blood, spleen and likely other organs. This global response is orchestrated in part through circulating cytokines that rise in conditions of cachexia...
June 2016: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/26810719/atypical-parkinsonism-in-c9orf72-expansions-a-case-report-and-systematic-review-of-45-cases-from-the-literature
#12
Carlo Wilke, Jörn K Pomper, Saskia Biskup, Cornelia Puskás, Daniela Berg, Matthis Synofzik
While C9orf72 repeat expansions usually present with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS), an increasing number of reports suggests that the primary phenotype of C9orf72 patients may also include movement disorders. We here provide the first systematic clinical characterisation of C9orf72-associated parkinsonism. We report a C9orf72 expansion carrier presenting with a clinical syndrome of progressive supranuclear palsy (PSP), pronounced mesencephalic atrophy on MRI and PSP-characteristic electrooculography findings...
March 2016: Journal of Neurology
https://www.readbyqxmd.com/read/26650802/transcranial-sonography-in-movement-disorders-an-interesting-tool-for-diagnostic-perspectives
#13
E Sanzaro, F Iemolo
Transcranial sonography has become an important tool for the diagnosis of various movement disorders. In most patients with idiopathic Parkinson disease, a markedly hyperechogenic substantia nigra (SN) was detected on at least one side. We have highlighted the sonographic features that might help the differential diagnosis of PD and other movement disorders. Our investigation involved 30 patients (age 45-85 years) with idiopathic Parkinson disease, 2 multiple system atrophy, 3 progressive supranuclear palsy and 2 patients with restless legs syndrome...
March 2016: Neurological Sciences
https://www.readbyqxmd.com/read/26458100/signalling-in-inflammatory-skin-disease-by-ap-1-fos-jun
#14
REVIEW
Özge Uluçkan, Juan Guinea-Viniegra, Maria Jimenez, Erwin F Wagner
Skin inflammation is a physiological reaction to tissue injury, pathogen invasion and irritants. During this process, innate and/or adaptive immune cells are activated and recruited to the site of inflammation to either promote or suppress inflammation. The sequential recruitment and activation of immune cells is modulated by a combination of cytokines and chemokines, which are regulated by transcription factors, such as AP-1 (Fos/Jun), NF-κB, NFATs, and STATs. Here we review the present evidence and the underlying mechanisms of how Jun/AP-1 proteins control skin inflammation...
July 2015: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/26388203/combination-therapies-the-next-logical-step-for-the-treatment-of-synucleinopathies
#15
REVIEW
Elvira Valera, Eliezer Masliah
Currently there are no disease-modifying alternatives for the treatment of most neurodegenerative disorders. The available therapies for diseases such as Parkinson's disease (PD), PD dementia (PDD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA), in which the protein alpha-synuclein (α-Syn) accumulates within neurons and glial cells with toxic consequences, are focused on managing the disease symptoms. However, using strategic drug combinations and/or multi-target drugs might increase the treatment efficiency when compared with monotherapies...
February 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/26324212/the-frontal-assessment-battery-is-not-useful-to-discriminate-progressive-supranuclear-palsy-from-frontotemporal-dementias
#16
M Stamelou, J Diehl-Schmid, A Hapfelmeier, D Kontaxopoulou, L Stefanis, W H Oertel, K P Bhatia, S G Papageorgiou, G U Höglinger
BACKGROUND: The frontal assessment battery (FAB) has been suggested as a useful tool in the differential diagnosis of progressive supranuclear palsy (PSP) from Parkinson's disease (PD) and multiple system atrophy with parkinsonism (MSA-P). However, the utility of the FAB in the differential diagnosis of PSP from frontotemporal dementia (FTD) phenotypes is still under research. METHODS: We performed the FAB, in a multi-centre cohort of 70 PSP, 103 FTD (N = 84 behavioral variant FTD, N = 10 semantic dementia, N = 9 progressive non-fluent aphasia), 26 PD and 11 MSA-P patients, diagnosed according to established criteria...
October 2015: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/26011879/automatic-segmentation-of-the-spinal-cord-and-spinal-canal-coupled-with-vertebral-labeling
#17
Benjamin De Leener, Julien Cohen-Adad, Samuel Kadoury
Quantifying spinal cord (SC) atrophy in neurodegenerative and traumatic diseases brings important diagnosis and prognosis information for the clinician. We recently developed the PropSeg method, which allows for fast, accurate and automatic segmentation of the SC on different types of MRI contrast (e.g., T1-, T2- and T2(∗) -weighted sequences) and any field of view. However, comparing measurements from the SC between subjects is hindered by the lack of a generic coordinate system for the SC. In this paper, we present a new framework combining PropSeg and a vertebral level identification method, thereby enabling direct inter- and intra-subject comparison of SC measurements for large cohort studies as well as for longitudinal studies...
August 2015: IEEE Transactions on Medical Imaging
https://www.readbyqxmd.com/read/25920617/moving-towards-treatments-for-spinal-muscular-atrophy-hopes-and-limits
#18
REVIEW
Brunhilde Wirth, Martine Barkats, Cecile Martinat, Michael Sendtner, Thomas H Gillingwater
Spinal muscular atrophy (SMA), one of the most frequent and devastating genetic disorders causing neuromuscular degeneration, has reached the forefront of clinical translation. The quite unique genetic situation of SMA patients, who lack functional SMN1 but carry the misspliced SMN2 copy gene, creates the possibility of correcting SMN2 splicing by antisense oligonucleotides or drugs. Both strategies showed impressive results in pre-clinical trials and are now in Phase II-III clinical trials. SMN gene therapy approaches using AAV9-SMN vectors are also highly promising and have entered a Phase I clinical trial...
September 2015: Expert Opinion on Emerging Drugs
https://www.readbyqxmd.com/read/25850948/lack-of-effect-of-sacral-nerve-stimulation-for-incontinence-in-patients-with-systemic-sclerosis
#19
MULTICENTER STUDY
S K Butt, A Alam, R Cohen, K Krogh, S Buntzen, A Emmanuel
AIM: Systemic sclerosis (SSc) is a multisystem disorder of unknown aetiology leading to the deposition of excessive connective tissue in the skin, blood vessels and internal organs. Gastrointestinal involvement occurs in 90% of cases and the prevalence of faecal incontinence (FI) is 38%. This study comprises the largest case series assessing the efficacy of sacral nerve stimulation (SNS) treatment for incontinence in this patient group. METHOD: A retrospective analysis on prospectively collected data was performed on all SSc patients from our two centres who had undergone SNS for FI...
October 2015: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
https://www.readbyqxmd.com/read/25804239/self-assembled-multi-ring-formations-of-glutamine-and-a-possible-link-to-erythema-gyratum-repens
#20
Derek Michael Forrester
In the body L-glutamine is abundant and required for the proliferation of cells. Indeed human physiology is dependent upon having and maintaining the correct glutamine levels for a range of functions including neurological signalling and a healthy immune system. However, during tumourigenesis cell proliferation demands elevated levels of glutamine, which can ultimately lead to muscle atrophy. In some cases the skin provides the first indications of the underlying disease and erupts in a wave of complicated pattern formations...
July 2015: Medical Hypotheses
keyword
keyword
60030
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"