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https://www.readbyqxmd.com/read/28533943/etiology-and-treatment-of-amyotrophic-lateral-sclerosis
#1
Hernando Rafael, Juan Oscar David, Antonio Santiago Vilca
BACKGROUND: To date all researchers conclude that the etiology of Amyotrophic lateral sclerosis (ALS) is not known. On the contrary, since August 2009, we believe that disease is of ischemic origin in the anterior surface of the medulla oblongata. MATERIAL AND METHOD: We present our surgical experience into 45 patients with ALS (bulbar form in 36 cases and spinal form in 9). Preoperative MRI scans revealed microinfarcts in the medulla oblongata and/or cervical cord...
2017: American Journal of Neurodegenerative Disease
https://www.readbyqxmd.com/read/28528293/spatiotemporal-movement-variability-in-als-speaking-rate-effects-on-tongue-lower-lip-and-jaw-motor-control
#2
Mili Kuruvilla-Dugdale, Antje Mefferd
PURPOSE: Although it is frequently presumed that bulbar muscle degeneration in Amyotrophic Lateral Sclerosis (ALS) is associated with progressive loss of speech motor control, empirical evidence is limited. Furthermore, because speaking rate slows with disease progression and rate manipulations are used to improve intelligibility in ALS, this study sought to (i) determine between and within-group differences in articulatory motor control as a result of speaking rate changes and (ii) identify the strength of association between articulatory motor control and speech impairment severity...
May 10, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28522837/age-related-penetrance-of-the-c9orf72-repeat-expansion
#3
Natalie A Murphy, Karissa C Arthur, Pentti J Tienari, Henry Houlden, Adriano Chiò, Bryan J Traynor
A pathogenic hexanucleotide repeat expansion within the C9orf72 gene has been identified as the major cause of two neurodegenerative syndromes, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This mutation is known to have incomplete penetrance, with some patients developing disease in their twenties and a small portion of carriers surviving to their ninth decade without developing symptoms. Describing penetrance by age among C9orf72 carriers and identifying parameters that alter onset age are essential to better understanding this locus and to enhance predictive counseling...
May 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28461025/amyotrophic-lateral-sclerosis-or-not-keys-for-the-diagnosis
#4
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/28455693/therapeutic-strategies-under-development-targeting-inflammatory-mechanisms-in-amyotrophic-lateral-sclerosis
#5
REVIEW
Sebastiano Giuseppe Crisafulli, Simona Brajkovic, Maria Sara Cipolat Mis, Valeria Parente, Stefania Corti
Amyotrophic lateral sclerosis (ALS) is a neurological disease characterized by the progressive loss of cortical, bulbar, and spinal motor neurons (MNs). The cardinal manifestation of ALS is a progressive paralysis which leads to death within a time span of 3 to 5 years after disease onset. Despite similar final output of neuronal death, the underlying pathogenic causes are various and no common cause of neuronal damage has been identified to date. Inflammation-mediated neuronal injury is increasingly recognized as a major factor that promotes disease progression and amplifies the MN death-inducing processes...
April 28, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28449881/genetics-of-amyotrophic-lateral-sclerosis
#6
REVIEW
P Corcia, P Couratier, H Blasco, C R Andres, S Beltran, V Meininger, P Vourc'h
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease characterized by upper and lower motor neuron damage in the bulbar and spinal territories. Although the pathophysiology of ALS is still unknown, the involvement of genetic factors is no longer a subject of debate. Familial ALS (fALS) accounts for 10-20% of cases. Since the identification of the SOD1 gene, more than 20 genes have been described, of which four can explain >50% of familial cases. This review is an update focused on major aspects of the field of ALS genetics concerning both causative and susceptibility factors...
May 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28444446/comparison-of-the-clinical-and-cognitive-features-of-genetically-positive-als-patients-from-the-largest-tertiary-center-in-serbia
#7
Ivan V Marjanović, Biljana Selak-Djokić, Stojan Perić, Milena Janković, Vladimir Arsenijević, Ivana Basta, Dragana Lavrnić, Elka Stefanova, Zorica Stević
Discovering novel mutations in C9orf72, FUS, ANG, and TDP-43 genes in ALS patients arises necessities for better clinical characterizations of these subjects. The aim is to determine clinical and cognitive profile of genetically positive Serbian ALS patients. 241 ALS patients were included in the study (17 familiar and 224 apparently sporadic). The following genes were analyzed: SOD1, C9orf72, ANG, FUS, and TDP-43. An extensive battery of classic neuropsychological tests was used in 27 ALS patients (22 SOD1 positive and 5 SOD1 negative) and 82 healthy controls (HCs)...
April 25, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28429524/the-investigation-of-genetic-and-clinical-features-in-chinese-patients-with-juvenile-amyotrophic-lateral-sclerosis
#8
Z-J Liu, H-X Lin, G-L Liu, Q-Q Tao, W Ni, B-G Xiao, Z-Y Wu
Juvenile amyotrophic lateral sclerosis (JALS) occurs at an age of onset below 25 years with a heterogeneous disease onset location, variable progression and survival time. To investigate whether an ALS gene profile could resolve any aspects of clinical symptom heterogeneity, we have used targeted sequencing technology in a cohort of 12 JALS patients of Chinese descent. We detected 5 likely pathogenic mutations, 2 in familial probands and 3 in sporadic patients. One was a known TARDBP mutation (p.G348V) and 4 were FUS frameshift mutations including a known p...
March 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28425762/the-evaluation-of-bulbar-dysfunction-in-amyotrophic-lateral-sclerosis-survey-of-clinical-practice-patterns-in-the-united-states
#9
Emily K Plowman, Lauren C Tabor, James Wymer, Gary Pattee
OBJECTIVE: Speech and swallowing impairments are highly prevalent in individuals with amyotrophic lateral sclerosis (ALS) and contribute to reduced quality of life, malnutrition, aspiration, pneumonia and death. Established practice parameters for bulbar dysfunction in ALS do not currently exist. The aim of this study was to identify current practice patterns for the evaluation of speech and swallowing function within participating Northeast ALS clinics in the United States. METHODS AND RESULTS: A 15-item survey was emailed to all registered NEALS centres...
April 20, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28424896/maximum-tongue-pressure-is-associated-with-swallowing-dysfunction-in-als-patients
#10
Aya Hiraoka, Mineka Yoshikawa, Masahiro Nakamori, Naohisa Hosomi, Toshikazu Nagasaki, Takahiro Mori, Masaya Oda, Hirofumi Maruyama, Mitsuyoshi Yoshida, Yuishin Izumi, Masayasu Matsumoto, Kazuhiro Tsuga
Maximum tongue pressure (MTP) measurement is a convenient, less invasive assessment that has been developed to quantify tongue strength; however, it is unclear whether MTP is useful for the detection of swallowing disorders in amyotrophic lateral sclerosis (ALS) patients. The purpose of this study was to clarify the relationship between MTP and the characteristics of swallowing disorders on videofluorography and to determine the usefulness of tongue pressure measurement for the assessment of swallowing function in ALS patients...
April 19, 2017: Dysphagia
https://www.readbyqxmd.com/read/28402699/inhibition-of-retrograde-transport-modulates-misfolded-protein-accumulation-and-clearance-in-motoneuron-diseases
#11
Riccardo Cristofani, Valeria Crippa, Paola Rusmini, Maria Elena Cicardi, Marco Meroni, Nausicaa V Licata, Gessica Sala, Elisa Giorgetti, Christopher Grunseich, Mariarita Galbiati, Margherita Piccolella, Elio Messi, Carlo Ferrarese, Serena Carra, Angelo Poletti
Motoneuron diseases, like spinal bulbar muscular atrophy (SBMA) and amyotrophic lateral sclerosis (ALS), are associated with proteins that because of gene mutation or peculiar structures, acquire aberrant (misfolded) conformations toxic to cells. To prevent misfolded protein toxicity, cells activate a protein quality control (PQC) system composed of chaperones and degradative pathways (proteasome and autophagy). Inefficient activation of the PQC system results in misfolded protein accumulation that ultimately leads to neuronal cell death, while efficient macroautophagy/autophagy-mediated degradation of aggregating proteins is beneficial...
April 12, 2017: Autophagy
https://www.readbyqxmd.com/read/28377742/dysphagia-in-amyotrophic-lateral-sclerosis-impact-on-patient-behavior-diet-adaptation-and-riluzole-management
#12
Emanuela Onesti, Ilenia Schettino, Maria Cristina Gori, Vittorio Frasca, Marco Ceccanti, Chiara Cambieri, Giovanni Ruoppolo, Maurizio Inghilleri
This retrospective study aimed to investigate the clinical features associated with deteriorated swallow in amyotrophic lateral sclerosis (ALS) patients with spinal and bulbar onset, describe the modification of diet and liquid intake, and assess the impact of dysphagia on the use of riluzole. One hundred forty-five patients were observed periodically every 3-6 months. They underwent routinely fiberoptic endoscopic evaluation of swallowing (FEES) and spirometry; dysphagia severity was classified according to the Penetration Aspiration Scale and the Pooling score (P-score) integrated with other parameters such as sensation, collaboration, and age (P-SCA score)...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28373799/adaptation-to-turkish-and-reliability-study-of-the-revised-amyotrophic-lateral-sclerosis-functional-rating-scale-alsfrs-r
#13
Filiz Koç, Mehmet Balal, Turgay Demir, Z Nazan Alparslan, Yakup Sarica
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a fatal disease characterized by progressive degeneration of the motor neurons. It is difficult to define the severity of the clinical findings of this destructive disease owing to its rapid progression, which presents serious alterations in a short time even in the same patient. The present study was designed to evaulate the validity of the Turkish version of the Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R), which has been used in various countries for measuring the functional status of ALS patients...
September 2016: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28355886/the-diagnostic-utility-of-patient-report-and-speech-language-pathologists-ratings-for-detecting-the-early-onset-of-bulbar-symptoms-due-to-als
#14
Kristen M Allison, Yana Yunusova, Thomas F Campbell, Jun Wang, James D Berry, Jordan R Green
OBJECTIVE: This study aimed to determine the diagnostic utility of clinician speech ratings and patient self-report for detecting early bulbar changes associated with amyotrophic lateral sclerosis (ALS), compared to instrumentation-based speech measures. METHODS: Thirty-six individuals with ALS and 17 healthy control participants were included. Patients' awareness of early bulbar motor involvement was assessed using self-reported scores on the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R)...
March 29, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28335033/lingual-alveolar-contact-pressure-during-speech-in-amyotrophic-lateral-sclerosis-preliminary-findings
#15
Jeff Searl, Stephanie Knollhoff, Richard J Barohn
Purpose: This preliminary study on lingual-alveolar contact pressures (LACP) in people with amyotrophic lateral sclerosis (ALS) had several aims: (a) to evaluate whether the protocol induced fatigue, (b) to compare LACP during speech (LACP-Sp) and during maximum isometric pressing (LACP-Max) in people with ALS (PALS) versus healthy controls, (c) to compare the percentage of LACP-Max utilized during speech (%Max) for PALS versus controls, and (d) to evaluate relationships between LACP-Sp and LACP-Max with word intelligibility...
March 23, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28320151/takotsubo-cardiomyopathy-in-amyotrophic-lateral-sclerosis
#16
Seok-Jin Choi, Yoon-Ho Hong, Je-Young Shin, Byung-Nam Yoon, Sung-Yeon Sohn, Chan Soon Park, Jung-Joon Sung
OBJECTIVE: To investigate the frequency, features, and prognosis of takotsubo cardiomyopathy (TTC) in patients with amyotrophic lateral sclerosis (ALS). METHODS: We reviewed detailed clinical, laboratory, and cardiovascular data from 64 ALS patients (38 men and 26 women) who underwent echocardiographic evaluation for various reasons at a single referral center between January 2011 and December 2015. RESULTS: TTC was diagnosed in 9 ALS patients (4 men and 5 women)...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28281365/seasons-and-als-time-of-death
#17
Susana Pinto, Mamede De Carvalho
INTRODUCTION: Respiratory complications are the main cause of death in amyotrophic lateral sclerosis (ALS). Season-associated-death risk was not addressed before. OBJECTIVE: To assess month/season-associated death risk in ALS. METHODS: We included all patients followed in our unit who died before 1 January 2016, excluding those with uncertain information. A χ(2) test assessed differences between months/seasons. A two-step cluster analysis explored the significant survival independent factors...
March 10, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28280986/caregivers-of-patients-with-amyotrophic-lateral-sclerosis-investigating-quality-of-life-caregiver-burden-service-engagement-and-patient-survival
#18
Tom Burke, Miriam Galvin, Marta Pinto-Grau, Katie Lonergan, Caoifa Madden, Iain Mays, Sile Carney, Orla Hardiman, Niall Pender
Few studies in amyotrophic lateral sclerosis (ALS) have profiled disease-specific features of the condition in conjunction with assessment of caregivers' burden, distress, quality of life, and investigated patient survival. Eighty-four ALS patients and their primary caregivers were enrolled. Patients completed ALS-specific measures of physical and cognitive function, while caregivers completed measures of anxiety, depression, caregiver burden, and quality of life. Patient-caregiver dyads were interviewed about their health-service utilisation...
March 9, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28264096/diagnostic-and-prognostic-biomarkers-in-amyotrophic-lateral-sclerosis-neurofilament-light-chain-levels-in-definite-subtypes-of-disease
#19
Alessandra Gaiani, Ilaria Martinelli, Luca Bello, Giorgia Querin, Marco Puthenparampil, Susanna Ruggero, Elisabetta Toffanin, Annachiara Cagnin, Chiara Briani, Elena Pegoraro, Gianni Sorarù
Importance: A clearer definition of the role of neurofilament light chain (NFL) as a biomarker in amyotrophic lateral sclerosis (ALS) is needed. Objectives: To assess the ability of NFL to serve as a diagnostic biomarker in ALS and the prognostic value of cerebrospinal fluid NFL in patients with ALS. Design, Setting, and Participants: In this single-center, retrospective, longitudinal study, disease progression was assessed by the ALS Functional Rating Score-Revised and the ALS Milano-Torino Staging system at baseline and 6, 12, 24, and 36 months...
May 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28242130/kennedy-s-disease-1234-scale-preliminary-design-and-test
#20
Ming Lu, Haixiao Guo, Dongsheng Fan
Kennedy's disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare x-linked genetic disorder which is characterized by muscle weakness and atrophy. In previous clinical trials, KD patients had been assessed using the ALSFRS scale, which was specifically designed for ALS patients. However, the progression of KD is very slow, and thus, the ALSFRS does not accurately reflect changes in the clinical condition of KD patient. Here, we developed the KD 1234 scale which designed specially for KD...
February 24, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
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