Publications by authors named "Miguel Gago"

Article Synopsis
  • Parkinson's disease (PD) is a serious brain illness, and a study called PRISM looked at how it affects patients in Portugal, including their health and how they live their lives.
  • In the study of 80 Portuguese PD patients, many were men around 66 years old, and they often dealt with depression and anxiety.
  • The research showed that most patients took a common medication called Levodopa and had a harder time enjoying life, with many needing mental health help and some even retiring early from their jobs.
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Introduction: Parkinson's disease (PD) is a neurodegenerative disorder commonly characterized by motor impairments. The development of mobile health (m-health) technologies, such as wearable and smart devices, presents an opportunity for the implementation of clinical tools that can support tasks such as early diagnosis and objective quantification of symptoms.

Objective: This study evaluates a framework to monitor motor symptoms of PD patients based on the performance of standardized exercises such as those performed during clinic evaluation.

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Background: Iron content is increased in the substantia nigra of persons with Parkinson's disease and may contribute to the pathophysiology of the disorder. Early research suggests that the iron chelator deferiprone can reduce nigrostriatal iron content in persons with Parkinson's disease, but its effects on disease progression are unclear.

Methods: We conducted a multicenter, phase 2, randomized, double-blind trial involving participants with newly diagnosed Parkinson's disease who had never received levodopa.

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Introduction: Shunt surgery (SS) remains the most effective treatment for idiopathic Normal pressure hydrocephalus (iNPH), but the selection of the patients with the greatest potential benefit remains elusive.

Objective: Identify gait features predictive of best response to SS in iNPH.

Methods: Eight patients with iNPH were assessed at baseline, after Cerebrospinal fluid tap-test (CSF-TT) and SS, with clinical scales (Clinical/Patient Global Clinical Impression, EuroQol-5D, Clinical Dementia Rating Scale(CDR), MoCA test, Hoehn-Yahr Scale) and gait analysis with inertial sensors.

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Brain-machine interfaces combining visual, auditory, and tactile feedback have been previously used to generate embodiment experiences during spinal cord injury (SCI) rehabilitation. It is not known if adding temperature to these modalities can result in discomfort with embodiment experiences. Here, comfort levels with the embodiment experiences were investigated in an intervention that required a chronic pain SCI patient to generate lower limb motor imagery commands in an immersive environment combining visual (virtual reality -VR), auditory, tactile, and thermal feedback.

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Idiopathic Parkinson's disease (IPD) and vascular parkinsonism (VaP) present highly overlapping phenotypes, making it challenging to distinguish between these two parkinsonian syndromes. Recent evidence suggests that gait assessment and response to levodopa medication may assist in the objective evaluation of clinical differences. In this paper, we propose a new approach for gait pattern differentiation that uses convolutional neural networks (CNNs) based on gait time series with and without the influence of levodopa medication.

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Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the gene that result in a deficiency of the enzymatic activity of α-galactosidase A and consequent accumulation of glycosphingolipids in body fluids and lysosomes of the cells throughout the body. GB3 accumulation occurs in virtually all cardiac cells (cardiomyocytes, conduction system cells, fibroblasts, and endothelial and smooth muscle vascular cells), ultimately leading to ventricular hypertrophy and fibrosis, heart failure, valve disease, angina, dysrhythmias, cardiac conduction abnormalities, and sudden death. Despite available therapies and supportive treatment, cardiac involvement carries a major prognostic impact, representing the main cause of death in FD.

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Lewy body dementia is a common cause of dementia leading to the progressive deterioration of cognitive function and motor skills, behavioral changes, and loss of autonomy, impairing the quality of life of patients and their families. Even though it is the second leading cause of neurodegenerative dementia, diagnosis is still challenging, due to its heterogenous clinical presentation, especially in the early stages of the disease. Accordingly, Lewy body dementia is often misdiagnosed and clinically mismanaged.

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Resting tremor in Parkinson's disease (PD) is one of the most distinctive motor symptoms. Appropriate symptom monitoring can help to improve management and medical treatments and improve the patients' quality of life. Currently, tremor is evaluated by physical examinations during clinical appointments; however, this method could be subjective and does not represent the full spectrum of the symptom in the patients' daily lives.

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Article Synopsis
  • Fabry disease (FD) is a genetic disorder caused by a lack of the enzyme α-galactosidase A due to mutations in the gene, leading to the buildup of harmful substances in the body.
  • Current treatments include enzyme replacement therapy (ERT) with agalsidase alfa and beta, and the chaperone migalastat, but unresolved issues remain regarding their effectiveness, dosing, and timing.
  • New therapies under research, such as innovative ERT forms, substrate reduction therapy, mRNA therapy, and gene therapy, aim to improve treatment outcomes since existing therapies do not completely resolve the disease's symptoms.
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Background: The common gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães.

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Background: Sporadic Parkinson's disease (PD) patients have lower α-galactosidase A (α-GAL A) enzymatic activity and Fabry disease (FD) patients potentially carry an increased risk of PD.

Objective: Determination of PD prevalence in FD and clinical, biochemical and vascular neuroimaging description of FD pedigrees with concomitant PD.

Methods: Clinical screening for PD in 229 FD patients belonging to 31 families, harbouring GLA gene mutation p.

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Background: Knowledge on clinical profiles of late-onset phenotypes of Fabry disease (FD) is essential to better define their natural history. Our study aims to demonstrate a founder effect of FD due to the GLA gene mutation c.337T>C (p.

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The literature on gait analysis in Vascular Parkinsonism (VaP), addressing issues such as variability, foot clearance patterns, and the effect of levodopa, is scarce. This study investigates whether spatiotemporal, foot clearance and stride-to-stride variability analysis can discriminate VaP, and responsiveness to levodopa. Fifteen healthy subjects, 15 Idiopathic Parkinson's Disease (IPD) patients and 15 VaP patients, were assessed in two phases: before (Off-state), and one hour after (On-state) the acute administration of a suprathreshold (1.

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Background: Patients with acute pulmonary embolism are at intermediate-high risk in the presence of imaging signs of right ventricular dysfunction plus one or more elevated cardiac biomarker. We hypothesised that intermediate-high risk patients with two elevated cardiac biomarkers and imaging signs of right ventricular dysfunction have a worse prognosis than those with one cardiac biomarker and imaging signs of right ventricular dysfunction.

Methods: We analysed the cumulative presence of cardiac biomarkers and imaging signs of right ventricular dysfunction in 525 patients with intermediate risk pulmonary embolism (intermediate-high risk = 237) presenting at the emergency department in two centres.

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Background: Identifying patients with normotensive pulmonary embolism (PE) who may benefit from thrombolysis remains challenging. We sought to develop and validate a score to predict 30-days PE-related mortality and/or rescue thrombolysis.

Methods: We retrospectively assessed 554 patients with normotensive PE.

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The loss of dopaminergic neurons (DAn) and reduced dopamine (DA) production underlies the reasoning behind the gold standard treatment for Parkinson's disease (PD) using levodopa (L-DOPA). Recently licensed by the European Medicine Agency (EMA) and US Food and Drug Administration (FDA), safinamide [a monoamine oxidase B (MOA-B) inhibitor] is an alternative to L-DOPA; as we discuss here, it enhances dopaminergic transmission with decreased secondary effects compared with L-DOPA. In addition, nondopaminergic actions (neuroprotective effects) have been reported, with safinamide inhibiting glutamate release and sodium/calcium channels, reducing the excitotoxic input to dopaminergic neuronal death.

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Imbalance and tripping over obstacles as a result of altered gait in older adults, especially in patients with Parkinson's disease (PD), are one of the most common causes of falls. During obstacle crossing, patients with PD modify their behavior in order to decrease the mechanical demands and enhance dynamic stability. Various descriptions of dynamic traits of gait that have been collected over longer periods, probably better synthesize the underlying structure and pattern of fluctuations in gait and can be more sensitive markers of aging or early neurological dysfunction and increased risk of falls.

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We report on the clinical, biochemical, and genetic findings of a large family with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G>T (p.E203X) of the GLA gene, which occurs in the active site of the α-galactosidase A enzyme.

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The use of wearable devices to study gait and postural control is a growing field on neurodegenerative disorders such as Alzheimer's disease (AD). In this paper, we investigate if machine-learning classifiers offer the discriminative power for the diagnosis of AD based on postural control kinematics. We compared Support Vector Machines (SVMs), Multiple Layer Perceptrons (MLPs), Radial Basis Function Neural Networks (RBNs), and Deep Belief Networks (DBNs) on 72 participants (36 AD patients and 36 healthy subjects) exposed to seven increasingly difficult postural tasks.

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Background: Alzheimer's disease (AD) is a chronic degenerative disease leading to global cognitive and functional decline. Quality of Life (QOL) is an important variable in the effectiveness of intervention programs in dementia.

Objective: This study analyzed the relationships between gender, psychological variables and QOL, the predictors of QOL, and the role of spirituality as a moderator between functionality and QOL.

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Background/aims: Alzheimer's disease (AD) patients have an impaired ability to quickly reweight central sensory dependence in response to unexpected body perturbations. Herein, we aim to study provoked compensatory postural adjustments (CPAs) in a conflicting sensory paradigm with unpredictable visual displacements using virtual reality goggles.

Methods: We used kinematic time-frequency analyses of two frequency bands: a low-frequency band (LB; 0.

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Background: Medication adherence is often assessed based on compliance to the dosage and frequency of physician's prescription. Cognitive impairment is one of the biggest barriers in elderly patients with Alzheimer's disease (AD), who are usually polymedicated with different oral drugs. Transdermal drug delivery, also requires mobility abilities, reinforcing the role of patients' caregivers.

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Postural control is a complex dynamic mechanism, which integrates information from visual, vestibular and somatosensory systems. Idiopathic Parkinson's disease (IPD) patients are unable to produce appropriate reflexive responses to changing environmental conditions. Still, it is controversial what is due to voluntary or involuntary postural control, even less what is the effect of levodopa.

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Background: Postural stability requires the integration of multisensory input information and translation into appropriate motor responses. Surprisingly, few previous studies have addressed the role of auditory input on postural stability in healthy subjects, and none has investigated this in Alzheimer's disease (AD).

Objective: To assess the influence of the visual and auditory systems on postural stability in patients with AD and healthy subjects.

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