Search results for " neuromuscular"

showing 10 items of 114 documents

The neurochaperonopathies: Anomalies of the chaperone system with pathogenic effects in neurodegenerative and neuromuscular disorders

2021

The chaperone (or chaperoning) system (CS) constitutes molecular chaperones, co-chaperones, and chaperone co-factors, interactors and receptors, and its canonical role is protein quality control. A malfunction of the CS may cause diseases, known as the chaperonopathies. These are caused by qualitatively and/or quantitatively abnormal molecular chaperones. Since the CS is ubiquitous, chaperonopathies are systemic, affecting various tissues and organs, playing an etiologic-pathogenic role in diverse conditions. In this review, we focus on chaperonopathies involved in the pathogenic mechanisms of diseases of the central and peripheral nervous systems: the neurochaperonopathies (NCPs). Genetic …

0301 basic medicineHspsDiseasechaperonopathieslcsh:Technologylcsh:Chemistry03 medical and health sciences0302 clinical medicineneurochaperonopathieschaperone systemchaperonotherapy.medicineGeneral Materials ScienceReceptorInstrumentationGenelcsh:QH301-705.5Fluid Flow and Transfer Processesbiologylcsh:TSettore BIO/16 - Anatomia UmanaProcess Chemistry and TechnologyNeurodegenerationmolecular chaperonesnervous systemGeneral Engineeringmedicine.diseaseHsp90lcsh:QC1-999Computer Science ApplicationsCell biologyPatient management030104 developmental biologylcsh:Biology (General)lcsh:QD1-999lcsh:TA1-2040Chaperone (protein)biology.proteinChaperone system ChaperonopathiesChaperonotherapy Hsps Molecular chaperones Nervous system Neurochaperonopathies Neurodegeneration neuromuscular disorderHSP60lcsh:Engineering (General). Civil engineering (General)030217 neurology & neurosurgerylcsh:Physics
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Protein misfolding, amyotrophic lateral sclerosis and guanabenz: Protocol for a phase II RCT with futility design (ProMISe trial)

2017

IntroductionRecent studies suggest that endoplasmic reticulum stress may play a critical role in the pathogenesis of amyotrophic lateral sclerosis (ALS) through an altered regulation of the proteostasis, the cellular pathway-balancing protein synthesis and degradation. A key mechanism is thought to be the dephosphorylation of eIF2α, a factor involved in the initiation of protein translation. Guanabenz is an alpha-2-adrenergic receptor agonist safely used in past to treat mild hypertension and is now an orphan drug. A pharmacological action recently discovered is its ability to modulate the synthesis of proteins by the activation of translational factors preventing misfolded protein accumula…

0301 basic medicineOncologyPathologyamyotrophic lateral sclerosisamyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein response; adrenergic alpha-2 receptor agonist s; age of onset; amyotrophic lateral sclerosis; disease progression; double-blind method; endoplasmic reticulum stress; guanabenz; humans; italy; medical futility; neuroprotective agents; proteostasis deficienciesamyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein response; Medicine (all)randomized clinical trial guanabenzHelsinki declaration0302 clinical medicineProtocolAdrenergic alpha-2 Receptor Agonists1506Amyotrophic lateral sclerosisAge of OnsetGuanabenzMedicine (all)amyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein responseNeurodegenerationamyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein response;amyotrophic lateral sclerosis; guanabenz; motor neurone disease; neuromuscular disease; randomized clinical trial; unfolded protein response; Adrenergic alpha-2 Receptor Agonists; Age of Onset; Amyotrophic Lateral Sclerosis; Disease Progression; Double-Blind Method; Endoplasmic Reticulum Stress; Guanabenz; Humans; Italy; Medical Futility; Neuroprotective Agents; Proteostasis DeficienciesGeneral Medicineunfolded protein responseEndoplasmic Reticulum StressRiluzoleNeuroprotective AgentsNeurologyTolerabilityItalyDisease Progression1713GuanabenzMedical Futilitymedicine.drugmedicine.medical_specialtyamyotrophic lateral sclerosis; motor neurone disease; neuromuscular disease; randomized clinical trial guanabenz; unfolded protein response; Adrenergic alpha-2 Receptor Agonists; Age of Onset; Amyotrophic Lateral Sclerosis; Disease Progression; Double-Blind Method; Endoplasmic Reticulum Stress; Guanabenz; Humans; Italy; Medical Futility; Neuroprotective Agents; Proteostasis Deficiencies; Medicine (all)Neuroprotection03 medical and health sciencesmotor neurone diseaseDouble-Blind MethodInternal medicinemedicineHumansProteostasis Deficienciesbusiness.industryAmbientaleneuromuscular diseaserandomized clinical trialmedicine.diseaseClinical trial030104 developmental biologybusiness030217 neurology & neurosurgery
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Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?

2021

Inherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several different lab abnormalities have been linked to INMD: sometimes they are typical of the disorder, but they usually appear to be less specific. Sometimes serum biomarkers can point out abnormalities in presymtomatic or otherwise asymptomatic patients (e.g., carriers). More often a biomarker of INMD is evaluated by multiple clinicians other than expert in NMD before the diagnosis, because of the multisystemic involvement in INMD. The authors performed a literature search on biomarkers in inherited neuromuscular disord…

0303 health sciencesHeterogeneous groupbusiness.industryGeneral Neurosciencebiomarkersrare diseasesinherited neuromuscular disordersReviewBioinformaticsAsymptomaticlcsh:RC321-57103 medical and health sciences0302 clinical medicineSerum biomarkersmedicineBiomarker (medicine)Settore MED/26 - Neurologiamedicine.symptombusinesslcsh:Neurosciences. Biological psychiatry. Neuropsychiatry030217 neurology & neurosurgery030304 developmental biologyBrain Sciences
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JCB887052 Supplemetal Material - Supplemental material for Longitudinal imaging and evaluation of SAH-associated cerebral large artery vasospasm in m…

2019

Supplemental material, JCB887052 Supplemetal Material for Longitudinal imaging and evaluation of SAH-associated cerebral large artery vasospasm in mice using micro-CT and angiography by Vanessa Weyer, Máté E Maros, Andrea Kronfeld, Stefanie Kirschner, Christoph Groden, Clemens Sommer, Yasemin Tanyildizi, Martin Kramer and Marc A Brockmann in Journal of Cerebral Blood Flow & Metabolism

110320 Radiology and Organ ImagingFOS: Clinical medicineFOS: Biological sciencesMedicineCell Biology110305 Emergency Medicine110306 EndocrinologyBiochemistry69999 Biological Sciences not elsewhere classified110904 Neurology and Neuromuscular DiseasesNeuroscience
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JCB905206 Supplemental Material - Supplemental material for Meprin β: A novel regulator of blood–brain barrier integrity

2020

Supplemental material, JCB905206 Supplemental Material for Meprin β: A novel regulator of blood–brain barrier integrity by Markus Gindorf, Steffen E Storck, Anke Ohler, Franka Scharfenberg, Christoph Becker-Pauly and Claus U Pietrzik in Journal of Cerebral Blood Flow & Metabolism

110320 Radiology and Organ ImagingFOS: Clinical medicineFOS: Biological sciencesMedicineCell Biology110305 Emergency Medicine110306 EndocrinologyBiochemistry69999 Biological Sciences not elsewhere classified110904 Neurology and Neuromuscular DiseasesNeuroscience
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sj-pdf-2-imr-10.1177_0300060520982657 - Supplemental material for Evaluation of main functional dyspepsia symptoms after probiotic administration in …

2021

Supplemental material, sj-pdf-2-imr-10.1177_0300060520982657 for Evaluation of main functional dyspepsia symptoms after probiotic administration in patients receiving conventional pharmacological therapies by Lorenzo Drago, Gabriele Meroni, Dario Pistone, Luigi Pasquale, Giuseppe Milazzo, Fabio Monica, Salvatore Aragona, Leonardo Ficano, Roberto Vassallo and Gastrobiota Group in Journal of International Medical Research

111199 Nutrition and Dietetics not elsewhere classifiedCardiology170199 Psychology not elsewhere classified111799 Public Health and Health Services not elsewhere classified110604 Sports MedicineFOS: Health sciences110306 Endocrinology110308 Geriatrics and Gerontology111099 Nursing not elsewhere classified111708 Health and Community Services160807 Sociological Methodology and Research Methods111702 Aged Health Care111403 Paediatrics110904 Neurology and Neuromuscular Diseases110203 Respiratory Diseases110315 OtorhinolaryngologyFOS: Clinical medicine110319 Psychiatry (incl. Psychotherapy)FOS: SociologyFOS: Psychology110599 Dentistry not elsewhere classified110323 Surgery110305 Emergency Medicine111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified111299 Oncology and Carcinogenesis not elsewhere classified110314 Orthopaedics
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sj-pdf-1-imr-10.1177_0300060520982657 - Supplemental material for Evaluation of main functional dyspepsia symptoms after probiotic administration in …

2021

Supplemental material, sj-pdf-1-imr-10.1177_0300060520982657 for Evaluation of main functional dyspepsia symptoms after probiotic administration in patients receiving conventional pharmacological therapies by Lorenzo Drago, Gabriele Meroni, Dario Pistone, Luigi Pasquale, Giuseppe Milazzo, Fabio Monica, Salvatore Aragona, Leonardo Ficano, Roberto Vassallo and Gastrobiota Group in Journal of International Medical Research

111199 Nutrition and Dietetics not elsewhere classifiedCardiology170199 Psychology not elsewhere classified111799 Public Health and Health Services not elsewhere classified110604 Sports MedicineFOS: Health sciences110306 Endocrinology110308 Geriatrics and Gerontology111099 Nursing not elsewhere classified111708 Health and Community Services160807 Sociological Methodology and Research Methods111702 Aged Health Care111403 Paediatrics110904 Neurology and Neuromuscular Diseases110203 Respiratory Diseases110315 OtorhinolaryngologyFOS: Clinical medicine110319 Psychiatry (incl. Psychotherapy)FOS: SociologyFOS: Psychology110599 Dentistry not elsewhere classified110323 Surgery110305 Emergency Medicine111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified111299 Oncology and Carcinogenesis not elsewhere classified110314 Orthopaedics
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sj-pdf-1-imr-10.1177_03000605211073305 - Supplemental material for Guanidinoacetate���creatine in secondary progressive multiple sclerosis: a case re…

2022

Supplemental material, sj-pdf-1-imr-10.1177_03000605211073305 for Guanidinoacetate���creatine in secondary progressive multiple sclerosis: a case report by Sergej M. Ostojic, Jelena Ostojic, Dragana Zanini, Tatjana Jezdimirovic and Valdemar Stajer in Journal of International Medical Research

111199 Nutrition and Dietetics not elsewhere classifiedCardiology170199 Psychology not elsewhere classified111799 Public Health and Health Services not elsewhere classified110604 Sports MedicineFOS: Health sciences110306 Endocrinology110308 Geriatrics and Gerontology111099 Nursing not elsewhere classified111708 Health and Community Services160807 Sociological Methodology and Research Methods111702 Aged Health Care111403 Paediatrics110904 Neurology and Neuromuscular Diseases110203 Respiratory Diseases110315 OtorhinolaryngologyFOS: Clinical medicine110319 Psychiatry (incl. Psychotherapy)FOS: SociologyFOS: Psychology110599 Dentistry not elsewhere classified110323 Surgery110305 Emergency Medicine111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified111299 Oncology and Carcinogenesis not elsewhere classified110314 Orthopaedics
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Clinical and therapeutic features of myasthenia gravis in adults based on age at onset

2020

[Objective] To describe the characteristics of patients with very-late-onset myasthenia gravis (MG).

AdultMalePediatricsmedicine.medical_specialtyThymomagenetic structuresCross-sectional studyInvestigación médicaEnfermedad del sistema nerviosoMEDLINEMiastenia gravisLate onsetDISEASECLASSIFICATIONArticleACETYLCHOLINE-RECEPTOR03 medical and health sciences0302 clinical medicineimmune system diseasesMyasthenia GravismedicineEnfermedades neuromuscularesHumansRITUXIMAB030212 general & internal medicineAge of OnsetAgedbusiness.industryAnálisis de datosMiddle Agedmedicine.diseaseMyasthenia gravisnervous system diseasesCross-Sectional StudiesTreatment OutcomeMulticenter studyANTIBODIESAUTOANTIBODIESFemaleObservational studyNeurology (clinical)Age of onsetbusiness030217 neurology & neurosurgeryMUSK
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Advancement flap in the management of chronic anal fissure: A prospective study

2012

Lateral internal sphincterotomy is the surgical treatment of choice of chronic anal fissure after failure of conservative measures. Several randomized trials identified an overall risk of incontinence of 10 % mostly for flatus. Fissurectomy is the most commonly used procedure to preserve the integrity of the anal sphincters. However, a possible complication is keyhole defect that may lead to faecal soiling. In this study, chronic anal fissure (CAF) was treated by fissurectomy and anal advancement flap to preserve the anatomo-functional integrity of sphincters and to reduce healing time and the risk of anal stenosis. In patients with hypertonia, surgical treatment was combined with chemical …

AdultMalemedicine.medical_specialtyAdolescentmedicine.medical_treatmentInjections IntramuscularSurgical FlapsFissurectomyFollow-Up StudieInternal anal sphincterAnal stenosismedicineDeformityHumansReconstructive Surgical ProcedureProspective StudiesKeyhole defectBotulinum Toxins Type ADigestive System Surgical ProceduresAdvancement flapAgedNeuromuscular Agentbusiness.industryUrinary retentionDigestive System Surgical ProcedureRecovery of FunctionPlastic Surgery ProceduresMiddle AgedSurgerySurgical FlapProspective StudieSettore MED/18 - Chirurgia GeneraleTreatment OutcomeNeuromuscular AgentsAnesthesiaChronic DiseaseDefecationHypertoniaFemaleSurgeryFissure in AnoAdvancement flap; Chronic anal fissure; Fissurectomy; Adolescent; Adult; Aged; Botulinum Toxins Type A; Chronic Disease; Digestive System Surgical Procedures; Female; Fissure in Ano; Follow-Up Studies; Humans; Injections Intramuscular; Male; Middle Aged; Neuromuscular Agents; Prospective Studies; Reconstructive Surgical Procedures; Recovery of Function; Treatment Outcome; Surgical Flaps; Surgerymedicine.symptombusinessLateral internal sphincterotomyChronic anal fissureFollow-Up StudiesHuman
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