The genetics of post-polio syndrome - much to be unravelled!

Saraswathy, Radha

doi:10.4103/0971-5916.193277

Cited by 4 publications

(4 citation statements)

References 13 publications

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“…La poliomielitis paralítica es causada por una infección con el poliovirus. 65 Los humanos son los únicos seres pródigos de este virus. 66 Este virus ataca específicamente a las neuronas motoras del asta anterior de la médula espinal y el tronco encefálico.…”

Section: Síndrome Pospoliomielítico (Spp)unclassified

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Trastornos de las neuronas motoras: causas, síntomas, factores de riesgo, diagnósticos y tratamientos

Laureani-Fierro

Aparicio

Morgado-Valle

et al. 2022

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En el Sistema Nervioso Central existen diferentes tipos de neuronas. Una de ellas son las células motoras o motoneuronas. Estas células son de gran importancia ya que llevan la información a los músculos del cuerpo. Debido a la degeneración de neuronas motoras piramidales en la corteza motora, neuronas del tallo cerebral y neuronas del asta anterior en la médula espinal inducen la aparición de enfermedades motoras que producen atrofia progresiva de los músculos. Así, cuando se dañan estas células nerviosas, se presentan diferentes enfermedades motoras “raras” como: la esclerosis lateral amiotrófica, la esclerosis lateral primaria, la atrofia muscular espinal, síndrome de Guillain-Barré, la atrofia muscular espinal-bulbar y el síndrome pospoliomielítico, entre otros. Las patologías motoras pueden tener un origen congénito, genético o ambiental (viral, por fármacos o esporádico). Aunque estas enfermedades motoras se consideran poco comunes, son de gran importancia ya que los pacientes no logran recuperarse por la progresión de la enfermedad, lo que conlleva al fallecimiento. Esta revisión, analiza una serie de estudios clínicos de los últimos 20 años en estas patologías motoras para comprender mejor su etiología, diagnóstico y tratamientos, como el uso de células madre en la producción de oligodendrocitos que producen mielina, el cual es un factor clave en las enfermedades motoras y la utilización de antioxidantes que pueden ser la clave para obtener resultados prometedores que tiene como objetivo mantener la esperanza de vida en los sujetos que las padecen.

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Section: Síndrome Pospoliomielítico (Spp)unclassified

“…El poliovirus tiene un receptor común conocido como receptor de poliovirus (PVR) que pertenece a la superfamilia de inmunoglobulinas CD155, un receptor de superficie celular de poliovirus que se encuentra en el cromosoma 19q13.2. 65…”

Section: Causasunclassified

Trastornos de las neuronas motoras: causas, síntomas, factores de riesgo, diagnósticos y tratamientos

Laureani-Fierro

Aparicio

Morgado-Valle

et al. 2022

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“…However, it is not yet confirmed to be present in patients with PPS. [18] Thus, further research is recommended to be performed to prove the presence of PVR polymorphism as well as to identify any form of gene mutation that can lead to the development of PPS.…”

Section: Risk Factorsmentioning

confidence: 99%

Postpolio syndrome: A review of lived experiences of patients

Oluwasanmi

Mckenzie

Adewole

et al. 2019

Int J App Basic Med Res

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Postpolio syndrome (PPS) refers to a group of conditions that are present in patients, years after recovery from initial acute paralytic poliomyelitis. About 15%–80% of 20 million polio survivors worldwide will experience exacerbation of symptoms which typically appear 15–30 years after the resolution of initial poliomyelitis. Symptoms include new muscle weakness, fatigue, myalgia, joint pain, dysphagia, and difficulty breathing. Other reported symptoms include cold intolerance, sleep disorder, dysphonia, loss of stamina, musculoskeletal deformities, cardiovascular disorders, psychosocial problems, and restless legs syndrome. These symptoms are attributed to the superimposed neuronal loss of aging with inflammatory mechanisms, but without any convincing evidence of viral reactivation. Risk factors include female gender, respiratory symptoms, normal aging, permanent disability caused by motor neuron damage, muscle overuse and disuse, aging, and immunologic mechanisms. Hypothyroidism-induced myopathy and fibromyalgia are a differential diagnosis for PPS, and exclusion diagnosis is required as confirmatory criteria for PPS. The symptoms of PPS presented determine the course of management.

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“…For example, newborn screening for patients with SMA is associated with earlier diagnosis and intervention, and motor milestones are often achieved at an earlier age, compared with clinically diagnosed patients ( 8 ). PPMA, also known as post-polio syndrome (PPS), is a chronic progressive disorder that may appear decades after the initial acute polio infection ( 9 ), affecting 20–40% of polio survivors and manifesting as neuromuscular complications ( 10 ). Although the incidence of paralytic poliomyelitis has declined significantly ( 11 ), PPS will remain a major health problem for many years ( 12 ).…”

Section: Introductionmentioning

confidence: 99%

Quality appraisal of clinical practice guidelines for motor neuron diseases or related disorders using the AGREE II instrument

Liu

et al. 2023

Front. Neurol.

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ObjectivesThis study aimed to systematically assess the quality of CPGs for motor neuron diseases (MNDs) or related disorders and identify the gaps that limit evidence-based practice.MethodsFour scientific databases and six guideline repositories were searched for eligible CPGs. Three researchers assessed the eligible CPGs using the Appraisal of Guidelines Research and Evaluation II instrument. The distribution of the level of evidence and strength of recommendation of these CPGs were determined. The univariate regression analysis was used to explore the characteristic factors affecting the quality of CPGs.ResultsFifteen CPGs met the eligibility criteria: 10 were for MND and 5 were for spinal muscular atrophy. The mean overall rating score was 44.5%, and only 3 of 15 CPGs were of high quality. The domains that achieved low mean scores were applicability (24.4%), rigor of development (39.9%), and stakeholder involvement (40.3%). Most recommendations were based on low-quality evidence and had a weak strength. The CPGs that were updated, meant for adults, and evidence based, and used a CPG quality tool and a grading system were associated with higher scores in certain specific domains and overall rating.ConclusionThe overall quality of CPGs for MNDs or related disorders was poor and recommendations were largely based on low-quality evidence. Many areas still need improvement to develop high-quality CPGs, and the use of CPG quality tools should be emphasized. A great deal of research on MNDs or related disorders is still needed to fill the large evidence gap.

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The genetics of post-polio syndrome - much to be unravelled!

Cited by 4 publications

References 13 publications

Trastornos de las neuronas motoras: causas, síntomas, factores de riesgo, diagnósticos y tratamientos

Trastornos de las neuronas motoras: causas, síntomas, factores de riesgo, diagnósticos y tratamientos

Postpolio syndrome: A review of lived experiences of patients

Quality appraisal of clinical practice guidelines for motor neuron diseases or related disorders using the AGREE II instrument

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