31 results on '"Mirek E"'
Search Results
2. Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.
- Author
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Montes, J, Mcdermott, Mp, Mirek, E, Mazzone, Elena Stacy, Main, M, Glanzman, Am, Duong, T, Young, Sd, Salazar, R, Pasternak, A, Gee, R, De Sanctis, R, Coratti, Giorgia, Forcina, N, Fanelli, L, Ramsey, D, Milev, E, Civitello, M, Pane, Marika, Pera, Maria Carmela, Scoto, M, Day, Jw, Tennekoon, G, Finkel, R, Darras, Bt, Muntoni, F, De Vivo, Dc, Mercuri, Eugenio Maria, Mazzone ES, Coratti G (ORCID:0000-0001-6666-5628), Pane M (ORCID:0000-0002-4851-6124), Pera MC (ORCID:0000-0001-6777-1721), Mercuri E. (ORCID:0000-0002-9851-5365), Montes, J, Mcdermott, Mp, Mirek, E, Mazzone, Elena Stacy, Main, M, Glanzman, Am, Duong, T, Young, Sd, Salazar, R, Pasternak, A, Gee, R, De Sanctis, R, Coratti, Giorgia, Forcina, N, Fanelli, L, Ramsey, D, Milev, E, Civitello, M, Pane, Marika, Pera, Maria Carmela, Scoto, M, Day, Jw, Tennekoon, G, Finkel, R, Darras, Bt, Muntoni, F, De Vivo, Dc, Mercuri, Eugenio Maria, Mazzone ES, Coratti G (ORCID:0000-0001-6666-5628), Pane M (ORCID:0000-0002-4851-6124), Pera MC (ORCID:0000-0001-6777-1721), and Mercuri E. (ORCID:0000-0002-9851-5365)
- Abstract
Individuals with spinal muscular atrophy (SMA) type 3 are able to walk but they have weakness, gait impairments and fatigue. Our primary study objective was to examine longitudinal changes in the six-minute walk test (6MWT) and to evaluate whether age and SMA type 3 subtype are associated with decline in ambulatory function. Data from three prospective natural history studies were used. Seventy-three participants who performed the 6MWT more than once, at least 6 months apart, were included; follow-up ranged from 0.5-9 years. Only data from patients who completed the 6MWT were included. The mean age of the participants was 13.5 years (range 2.6-49.1), with 52 having disease onset before age 3 years (type 3A). At baseline, type 3A participants walked a shorter distance on average (257.1 m) than type 3B participants (390.2 m) (difference = 133.1 m, 95% confidence interval [CI] 71.8-194.3, p < 0.001). Distance walked was weakly associated with age (r = 0.25, p = 0.04). Linear mixed effects models were used to estimate the mean annual rate of change. The overall mean rate of change was -7.8 m/year (95% CI -13.6 --2.0, p = 0.009) and this did not differ by subtype (type 3A: -8.5 m/year, type 3B: -6.6 m/year, p = 0.78), but it did differ by age group (< 6: 9.8 m/year; 6-10: -7.9 m/year; 11-19: -20.8 m/year; ≥ 20: -9.7 m/year; p = 0.005). Our results showed an overall decline on the 6MWT over time, but different trajectories were observed depending on age. Young ambulant SMA patients gain function but in adolescence, patients lose function. Future clinical trials in ambulant SMA patients should consider in their design the different trajectories of ambulatory function over time, based on age.
- Published
- 2018
3. Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function.
- Author
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Salazar, R, Montes, J, Dunaway Young, S, Mcdermott, Mp, Martens, W, Pasternak, A, Quigley, J, Mirek, E, Glanzman, Am, Civitello, M, Gee, R, Duong, T, Mazzone, Elena Stacy, Main, M, Mayhew, A, Ramsey, D, Muni Lofra, R, Coratti, Giorgia, Fanelli, L, De Sanctis, R, Forcina, N, Chiriboga, C, Darras, Bt, Tennekoon, Gi, Scoto, M, Day, Jw, Finkel, R, Muntoni, F, Mercuri, Eugenio Maria, De Vivo, Dc., Mazzone ES, Coratti G (ORCID:0000-0001-6666-5628), Mercuri E (ORCID:0000-0002-9851-5365), Salazar, R, Montes, J, Dunaway Young, S, Mcdermott, Mp, Martens, W, Pasternak, A, Quigley, J, Mirek, E, Glanzman, Am, Civitello, M, Gee, R, Duong, T, Mazzone, Elena Stacy, Main, M, Mayhew, A, Ramsey, D, Muni Lofra, R, Coratti, Giorgia, Fanelli, L, De Sanctis, R, Forcina, N, Chiriboga, C, Darras, Bt, Tennekoon, Gi, Scoto, M, Day, Jw, Finkel, R, Muntoni, F, Mercuri, Eugenio Maria, De Vivo, Dc., Mazzone ES, Coratti G (ORCID:0000-0001-6666-5628), and Mercuri E (ORCID:0000-0002-9851-5365)
- Abstract
PURPOSE: To quantitatively describe passive lower extremity range of motion in participants with spinal muscular atrophy (SMA) types 2 and 3, and to establish preliminary thresholds to identify individuals at risk for performing poorly on disease-specific motor function outcome measures. METHODS: Eighty participants with SMA types 2 and 3, enrolled in an international multicenter natural history study, were evaluated with lower extremity range of motion testing and the Hammersmith Functional Motor Scale-Expanded. RESULTS: A hip extension joint angle of -7.5° or less for SMA type 2 and 0° or less for SMA type 3 identified diminished motor ability with good sensitivity. For knee extension, a joint angle of -9.0° or less for SMA type 2 or 0° or less for SMA type 3 was similarly sensitive. CONCLUSIONS: Minimal hip and knee joint contractures were associated with diminished motor ability. Clinical trial designs should consider the effect of contractures on motor function.
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- 2018
4. First international workshop on rehabilitation management and clinical outcome measures for spinal muscular atrophy
- Author
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Montes, J., Young, S. D., Mazzone, Elena Stacy, Main, M., Bartels, B., Civitello, M., Coratti, Giorgia, Duong, T., Estilow, T., Gee, R., Glanzman, A. M., Kitsuwa-Lowe, J., Mayhew, A., Mazzone, E., Mirek, E., Lofra, R. M., Pandya, S., Pasternak, A., Ramsey, D., Salazar, R., Turner, J., and Wells, J.
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Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE ,Neurology ,Clinical Neurology ,Journal Article ,Genetics(clinical) ,Pediatrics, Perinatology, and Child Health ,rehabilitation ,spinal muscular atrophy - Abstract
Twenty-one physical and occupational therapists from the USA and Europe (Italy, United Kingdom and Netherlands) met in Dallas, Texas USA on October 16 and 17, 2016. The purpose of this meeting was to review the current landscape of rehabilitation management and clinical outcome measures for spinal muscular atrophy (SMA). The workshop was organized into three sessions entitled: (1) Rehabilitation and Musculoskeletal Considerations; (2) SMA Clinical Outcome Measures; and (3) Rehabilitation Devices for Evaluation and Treatment. A closing session was included to summarize the meeting topics, next steps and proposed action items.
- Published
- 2017
5. Nusinersen versus sham control in infantile-onset spinal muscular atrophy
- Author
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Finkel, RS, Mercuri, E, Darras, BT, Connolly, AM, Kuntz, NL, Kirschner, J, Chiriboga, CA, Saito, K, Servais, L, Tizzano, E, Topaloglu, H, Tulinius, M, Montes, J, Glanzman, AM, Bishop, K, Zhong, ZJ, Gheuens, S, Bennett, CF, Schneider, E, Farwell, W, De Vivo, DC, Bradley, WG, Schroth, MK, Bodensteriner, JB, Davis, CS, Shell, R, Hen, J, Austin, ED, Aziz-Zaman, S, Cappell, J, Constantinescu, A, Cruz, R, Dastgir, J, Dunaway, S, Engelstad, K, Gormley, M, Holuba La Marca, N, Khandji, A, Kramer, S, Marra, J, Ortiz-Miller, C, Popolizio, M, Salazar, R, Sanabria, L, Weimer, L, Anand, P, Gadeken, R, Golumbek, PT, Siener, C, Zaidman, CM, Al-Ghamdi, F, Berde, C, Ghosh, P, Graham, R, Harrington, T, Koka, A, Laine, R, Liew, W, Mirek, E, Ordonez, G, Pasternak, A, Quigley, J, Sethna, N, Souris, M, Szelag, H, Wand, L, Day, JW, D'Souza, G, Duong, TT, Gee, R, Kitsuwa-Lowe, J, McFall, D, Patnaik, S, Paulose, S, Perez, J, Proud, C, Purse, B, Ramamurthi, RJ, Sakamuri, S, Sampson, J, Sanjanwala, B, Tesi Rocha, AC, Watson, K, Welsh, L, Pena, LDM, Case, L, Coates, J, DeArmey, S, Homi, MM, Milleson, C, Nelson, N, Ross, A, Smith, E, Taicher, B, Wootton, J, Finanger, E, Benjamin, D, Frank, A, Roberts, C, Russman, B, Finkel, RS, Mercuri, E, Darras, BT, Connolly, AM, Kuntz, NL, Kirschner, J, Chiriboga, CA, Saito, K, Servais, L, Tizzano, E, Topaloglu, H, Tulinius, M, Montes, J, Glanzman, AM, Bishop, K, Zhong, ZJ, Gheuens, S, Bennett, CF, Schneider, E, Farwell, W, De Vivo, DC, Bradley, WG, Schroth, MK, Bodensteriner, JB, Davis, CS, Shell, R, Hen, J, Austin, ED, Aziz-Zaman, S, Cappell, J, Constantinescu, A, Cruz, R, Dastgir, J, Dunaway, S, Engelstad, K, Gormley, M, Holuba La Marca, N, Khandji, A, Kramer, S, Marra, J, Ortiz-Miller, C, Popolizio, M, Salazar, R, Sanabria, L, Weimer, L, Anand, P, Gadeken, R, Golumbek, PT, Siener, C, Zaidman, CM, Al-Ghamdi, F, Berde, C, Ghosh, P, Graham, R, Harrington, T, Koka, A, Laine, R, Liew, W, Mirek, E, Ordonez, G, Pasternak, A, Quigley, J, Sethna, N, Souris, M, Szelag, H, Wand, L, Day, JW, D'Souza, G, Duong, TT, Gee, R, Kitsuwa-Lowe, J, McFall, D, Patnaik, S, Paulose, S, Perez, J, Proud, C, Purse, B, Ramamurthi, RJ, Sakamuri, S, Sampson, J, Sanjanwala, B, Tesi Rocha, AC, Watson, K, Welsh, L, Pena, LDM, Case, L, Coates, J, DeArmey, S, Homi, MM, Milleson, C, Nelson, N, Ross, A, Smith, E, Taicher, B, Wootton, J, Finanger, E, Benjamin, D, Frank, A, Roberts, C, and Russman, B
- Abstract
BACKGROUND: Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an antisense oligonucleotide drug that modifies pre–messenger RNA splicing of the SMN2 gene and thus promotes increased production of full-length SMN protein. METHODS: We conducted a randomized, double-blind, sham-controlled, phase 3 efficacy and safety trial of nusinersen in infants with spinal muscular atrophy. The primary end points were a motor-milestone response (defined according to results on the Hammersmith Infant Neurological Examination) and event-free survival (time to death or the use of permanent assisted ventilation). Secondary end points included overall survival and subgroup analyses of event-free survival according to disease duration at screening. Only the first primary end point was tested in a prespecified interim analysis. To control the overall type I error rate at 0.05, a hierarchical testing strategy was used for the second primary end point and the secondary end points in the final analysis. RESULTS: In the interim analysis, a significantly higher percentage of infants in the nusinersen group than in the control group had a motor-milestone response (21 of 51 infants [41%] vs. 0 of 27 [0%], P<0.001), and this result prompted early termination of the trial. In the final analysis, a significantly higher percentage of infants in the nusinersen group than in the control group had a motor-milestone response (37 of 73 infants [51%] vs. 0 of 37 [0%]), and the likelihood of event-free survival was higher in the nusinersen group than in the control group (hazard ratio for death or the use of permanent assisted ventilation, 0.53; P=0.005). The likelihood of overall survival was higher in the nusinersen group than in the control group (hazard ratio for death, 0.37; P=0.004), and infants with a shorter disease duration at screening were more likely than those with a longer disea
- Published
- 2017
6. [Stanols--a new perspective in treatment of hypercholesterolemia?]
- Author
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Jankowski P, Grzegorz Bilo, Bryniarski L, Bryniarska-Mirek E, and Pajak A
- Subjects
Postmenopause ,Cholesterol ,Diabetes Mellitus, Type 2 ,Intestinal Absorption ,Cardiovascular Diseases ,Anticholesteremic Agents ,Hypercholesterolemia ,Humans ,Female ,Cholesterol, LDL ,Middle Aged ,Sitosterols ,Aged - Abstract
Since the unfavorable impact of hypercholesterolemia on the cardiovascular system has been proven, effective, inexpensive and easy to use cholesterol-lowering treatment options have been looked for. In the 1990s as the effect of a few decades of research, stanols have been introduced as new cholesterol-lowering agents. Stanols are derivates of plant sterols, which act through inhibition of intestinal cholesterol absorption. Their incorporation into normal diet fats has led to a significant reduction of both total and LDL cholesterol in investigated subjects, also in those on cholesterol-lowering diet or taking cholesterol-lowering drugs. When the dose considered optimal, i.e. 2-3 g/d, was used, the average reduction was 10% for total and 14% for LDL cholesterol. So far no adverse effects of stanols and no influence on the taste of food have been observed. The possible role of stanols in primary and secondary prevention of cardiovascular diseases still remains to be verified. It seems, however, that stanols have a potential to become a significant element in the treatment of hypercholesterolemia and in preventing its consequences.
- Published
- 2001
7. A comparison of three Deformable Image Registration Algorithms in 4DCT using conventional contour based methods and voxel-by-voxel comparison methods.
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Mirek eFatyga, Nesrin eDogan, Jeffrey eWilliamson, Elizabeth eWeiss, William eSleeman, William eLehman, Baoshe eZhang, Krishni eWijesooriya, and Gary eChristensen
- Subjects
medical imaging ,Deformable Image Registration ,Deformable Dose Addition ,adiation oncology ,4DCT ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Background: Commonly used methods of assessing the accuracy of Deformable Image Registration (DIR) rely on image segmentation or landmark selection. These methods are very labor intensive and thus limited to relatively small number of image pairs. The direct voxel-by-voxel comparison can be automated to examine fluctuations in DIR quality on a long series of image pairs.Methods: A voxel-by-voxel comparison of three DIR algorithms applied to lung patients is presented. Registrations are compared by comparing volume histograms formed both with individual DIR maps and with a voxel-by-voxel subtraction of the two maps. When two DIR maps agree one concludes that both maps are interchangeable in treatment planning applications, though one cannot conclude that either one agrees with the ground truth. If two DIR maps significantly disagree one concludes that at least one of the maps deviates from the ground truth. We use the method to compare three DIR algorithms applied to peak inhale-peak exhale registrations of 4DFBCT data obtained from thirteen patients. Results: All three algorithms appear to be nearly equivalent when compared using DICE similarity coefficients. A comparison based on Jacobian Volume Histograms shows that all three algorithms measure changes in total volume of the lungs with reasonable accuracy, but show large differences in the variance of Jacobian distribution on all contoured structures. Analysis of voxel-by-voxel subtraction of DIR maps shows that the three algorithms differ to a degree which is sufficient to create a potential for dosimetric discrepancy during dose accumulation.Conclusions: DIR algorithms can perform well in some clinical applications, while potentially fail in others. These algorithms are best treated as potentially useful approximations of tissue deformation that need to be separately validated for every intended clinical application.
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- 2015
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8. The application of virtual reality in neuro-rehabilitation: Motor re-learning supported by innovative technologies
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Jozef Opara, Roman Nowobilski, Paolo Tonin, Pawel Kiper, Andrea Turolla, Michela Agostini, Andrzej Szczudlik, Elżbieta Mirek, Kiper P., Szczudlik A., Mirek E., Nowobilski R., Opara J., Agostini M., Tonin P., and Turolla A.
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rehabilitacja ,business.industry ,Motor learning ,Rehabilitation ,robot-aided therapy ,Virtual reality ,terapia wspomagana przez robota ,rehabilitation ,Human–computer interaction ,Medicine ,virtual reality ,business ,rzeczywistość wirtualna ,motor learning ,Robot-aided therapy ,Neurorehabilitation ,uczenie się ruchu - Abstract
Upośledzenie funkcji ruchowych po udarze mózgu u wielu chorych ma negatywny wpływ na samodzielność i czynności życia codziennego oraz wymaga długotrwałej rehabilitacji. Liczne badania wykazały, że uczenie się nowych umiejętności motorycznych pobudza neuroplastyczność mózgu i umożliwia poprawę funkcjonalną. Innowacyjne technologie wykorzystywane w rehabilitacji wzmacniają możliwości treningu ruchowego poprzez dostarczanie informacji zwrotnej. Łączenie tradycyjnej rehabilitacji ruchowej z innowacyjną technologią poprzez wzmocniony trening umożliwia przyspieszenie ponownego uczenia się ruchu i nabywania umiejętności funkcjonalnych. Otoczenie wzbogacone przez informacje zwrotną angażuje wiele zmysłów i stymuluje pacjenta do aktywnej pracy. Ćwiczenia w otoczeniu wirtualnym maksymalizują efekt uczenia się ruchu poprzez powtarzające się i zróżnicowane zadania oraz dostarczenie informacji zwrotnej w odniesieniu do działania i jego efektu. Innowacyjne technologie rehabilitacyjne, zarówno terapia wirtualna, jak i urządzenia - roboty, pozwalają na specyficzne leczenie oparte na treningu z wykorzystaniem wzmocnionego sprzężenia zwrotnego w środowisku wirtualnym (Reinforced Feedback in Virtual Environment - RFVE), zwiększając informacje czuciowe odpowiadające rzeczywistym zadaniom i przedmiotom. Trening ruchowy oparty na RFVE daje także możliwość poszerzenia wiedzy na temat technik wykorzystywanych do poprawy czynności ruchowych niedowładnej kończyny. The motor function impairment resulting from a stroke injury has a negative impact on autonomy, the activities of daily living thus the individuals affected by a stroke need long-term rehabilitation. Several studies have demonstrated that learning new motor skills is important to induce neuroplasticity and functional recovery. Innovative technologies used in rehabilitation allow one the possibility to enhance training throughout generated feedback. It seems advantageous to combine traditional motor rehabilitation with innovative technology in order to promote motor re-learning and skill re-acquisition by means of enhanced training. An environment enriched by feedback involves multiple sensory modalities and could promote active patient participation. Exercises in a virtual environment contain elements necessary to maximize motor learning, such as repetitive and diffe-rentiated task practice and feedback on the performance and results. The recovery of the limbs motor function in post-stroke subjects is one of the main therapeutic aims for patients and physiotherapist alike. Virtual reality as well as robotic devices allow one to provide specific treatment based on the reinforced feedback in a virtual environment (RFVE), artificially augmenting the sensory information coherent with the real-world objects and events. Motor training based on RFVE is emerging as an effective motor learning based techniques for the treatment of the extremities.
9. Physical Activity, Psychological and Functional Outcomes in Non-Ambulatory Stroke Patients during Rehabilitation-A Pilot Study.
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Błaszcz M, Prucnal N, Wrześniewski K, Pasiut S, Mika P, Kucia M, Stach B, Woźniak M, and Mirek E
- Abstract
Despite the extensive literature on stroke rehabilitation, there are few studies that comprehensively show non-ambulatory stroke patients. The aim of the study was to explore the dynamics of the change in physical activity (PA), psychological and functional outcomes, and the correlation between them in non-ambulatory patients during early in-patient post-stroke rehabilitation. Measurements were taken on 21 participants at the beginning of and 6 weeks post-conventional rehabilitation with the Barthel Index (BI), Berg Balance Scale (BBS), Trunk Control Test (TCT), Stroke Impact Scale (SIS), General Self-Efficacy Scale, Stroke Self-Efficacy Questionnaire (SSEQ), the original scale of belief in own impact on recovery (BiOIoR), Hospital Anxiety and Depression Scale, Acceptance of Illness Scale and when the patient could walk—Time Up & Go and 6 Minute Walk Test. Daily PA was assessed over 6 weeks using a Caltrac accelerometer. Only outcomes for BI, BBS, TCT, SIS, and SSEQ significantly improved 6 weeks post-rehabilitation. PA energy expenditure per day significantly increased over time (p < 0.001; effect size = 0.494), but PA only increased significantly up to the third week. PA change was correlated with BiOIoR post-treatment. Self-efficacy in self-management mediated improvement in SIS. The BiOIoR and confidence in self-management could be important factors in the rehabilitation process.
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- 2022
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10. Discordant regulation of eIF2 kinase GCN2 and mTORC1 during nutrient stress.
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Misra J, Holmes MJ, T Mirek E, Langevin M, Kim HG, Carlson KR, Watford M, Dong XC, Anthony TG, and Wek RC
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- Animals, Cell Survival drug effects, Cell Survival genetics, Cells, Cultured, Codon genetics, Gene Ontology, Liver drug effects, Mice, Mice, Inbred C57BL, Mice, Knockout, Phosphorylation, Piperidines administration & dosage, Piperidines pharmacology, Polyribosomes metabolism, Protein Serine-Threonine Kinases genetics, Protein Synthesis Inhibitors administration & dosage, Protein Synthesis Inhibitors pharmacology, Quinazolinones administration & dosage, Quinazolinones pharmacology, RNA, Transfer genetics, RNA, Transfer metabolism, Signal Transduction drug effects, Stress, Physiological drug effects, Mechanistic Target of Rapamycin Complex 1 metabolism, Protein Serine-Threonine Kinases metabolism, Signal Transduction genetics, Stress, Physiological genetics
- Abstract
Appropriate regulation of the Integrated stress response (ISR) and mTORC1 signaling are central for cell adaptation to starvation for amino acids. Halofuginone (HF) is a potent inhibitor of aminoacylation of tRNAPro with broad biomedical applications. Here, we show that in addition to translational control directed by activation of the ISR by general control nonderepressible 2 (GCN2), HF increased free amino acids and directed translation of genes involved in protein biogenesis via sustained mTORC1 signaling. Deletion of GCN2 reduced cell survival to HF whereas pharmacological inhibition of mTORC1 afforded protection. HF treatment of mice synchronously activated the GCN2-mediated ISR and mTORC1 in liver whereas Gcn2-null mice allowed greater mTORC1 activation to HF, resulting in liver steatosis and cell death. We conclude that HF causes an amino acid imbalance that uniquely activates both GCN2 and mTORC1. Loss of GCN2 during HF creates a disconnect between metabolic state and need, triggering proteostasis collapse., (© The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research.)
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- 2021
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11. Psychometric properties of the PEDI-CAT for children and youth with spinal muscular atrophy.
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Fragala-Pinkham M, Pasternak A, McDermott MP, Mirek E, Glanzman AM, Montes J, Dunaway Young S, Salazar R, Quigley J, Riley SO, Chiriboga CA, Finkel RS, Tennekoon G, Martens WB, De Vivo DC, and Darras BT
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- Adolescent, Child, Computers, Cross-Sectional Studies, Humans, Mobility Limitation, Prospective Studies, Psychometrics, Reproducibility of Results, Disability Evaluation, Muscular Atrophy, Spinal
- Abstract
Purpose: The purpose of this study was to examine the psychometric properties of the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test (PEDI-CAT) in children and youth with Spinal Muscular Atrophy (SMA)., Methods: In this prospective cross-sectional study, caregivers of children and youth with SMA completed the PEDI-CAT Daily Activities and Mobility domains. A subset of caregivers completed a questionnaire about the measure., Results: Mean ranks of scaled scores for Daily Activities (n = 96) and Mobility (n = 95) domains were significantly different across the three SMA types and across the three motor classifications. Normative scores indicated that 85 participants (89.5%) had limitations in Mobility and 51 in Daily Activities (53.1%). Floor effects were observed in≤10.4% of the sample for Daily Activities and Mobility. On average, caregivers completed the Mobility domain in 5.4 minutes and the Daily Activities domain in 3.3 minutes. Most caregivers reported that they provided meaningful information (92.1%), were willing to use the PEDI-CAT format again (79%), and suggested adding content including power wheelchair mobility items., Conclusion: Convergent validity was demonstrated for the Daily Activities and Mobility domains. Normative scores detected limitations in Mobility and Daily Activity performance for most participants with SMA. The PEDI-CATwas feasible to administer and caregivers expressed willingness to complete the PEDI-CAT in the future.
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- 2021
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12. Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy1.
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Dunaway Young S, Montes J, Salazar R, Glanzman AM, Pasternak A, Mirek E, Martens W, Finkel RS, Darras BT, and De Vivo DC
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- Adolescent, Child, Child, Preschool, Female, Follow-Up Studies, Humans, Male, Movement Disorders etiology, Scoliosis etiology, Spinal Muscular Atrophies of Childhood complications, Movement Disorders physiopathology, Orthopedic Procedures adverse effects, Outcome and Process Assessment, Health Care, Postoperative Complications, Scoliosis surgery, Spinal Muscular Atrophies of Childhood physiopathology, Spinal Muscular Atrophies of Childhood surgery
- Abstract
Background: Weakness affects motor performance and causes skeletal deformities in spinal muscular atrophy (SMA). Scoliosis surgery decision-making is based on curve progression, pulmonary function, and skeletal maturity. Benefits include quality of life, sitting balance, and endurance. Post-operative functional decline has not been formally assessed., Objective: To assess the impact of scoliosis surgery on motor function in SMA types 2 and 3., Methods: Prospective data were acquired during a multicenter natural history study. Seventeen participants (12 type 2, 5 type 3 with 4 of the 5 having lost the ability to ambulate) had motor function assessed using the Hammersmith Functional Motor Scale Expanded (HFMSE) performed pre-operatively and at least 3 months post-operatively. Independent t-tests determined group differences based on post-operative HFMSE changes, age, and baseline HFMSE scores., Results: Three participants had minimal HFMSE changes (±2 points) representing stability (mean change = -0.7). Fourteen participants lost >3 points, representing a clinically meaningful progressive change (mean change = -12.1, SD = 8.9). No participant improved >2 points. There were no age differences between stable and progressive groups (p = 0.278), but there were significant differences between baseline HFMSE (p = 0.006) and change scores (p = 0.001). Post-operative changes were permanent over time., Conclusions: Scoliosis surgery has an immediate impact on function. Baseline HFMSE scores anticipate post-operative loss as higher motor function scores were associated with worse decline. Instrumentation that includes fixation to the pelvis reduces flexibility, limiting the ability for compensatory maneuvers. These observations provide information to alert clinicians regarding surgical risk and to counsel families.
- Published
- 2020
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13. BMAL1 associates with chromosome ends to control rhythms in TERRA and telomeric heterochromatin.
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Park J, Zhu Q, Mirek E, Na L, Raduwan H, Anthony TG, and Belden WJ
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- Animals, DNA-Binding Proteins genetics, Female, Gene Expression Regulation, Male, Mice, Mice, Inbred C57BL, Mice, Knockout, Repetitive Sequences, Nucleic Acid, Transcription Factors genetics, ARNTL Transcription Factors physiology, Cellular Senescence, Chromosomes physiology, Circadian Rhythm, DNA-Binding Proteins metabolism, Heterochromatin physiology, Telomere genetics, Transcription Factors metabolism
- Abstract
The circadian clock and aging are intertwined. Disruption to the normal diurnal rhythm accelerates aging and corresponds with telomere shortening. Telomere attrition also correlates with increase cellular senescence and incidence of chronic disease. In this report, we examined diurnal association of White Collar 2 (WC-2) in Neurospora and BMAL1 in zebrafish and mice and found that these circadian transcription factors associate with telomere DNA in a rhythmic fashion. We also identified a circadian rhythm in Telomeric Repeat-containing RNA (TERRA), a lncRNA transcribed from the telomere. The diurnal rhythm in TERRA was lost in the liver of Bmal1-/- mice indicating it is a circadian regulated transcript. There was also a BMAL1-dependent rhythm in H3K9me3 at the telomere in zebrafish brain and mouse liver, and this rhythm was lost with increasing age. Taken together, these results provide evidence that BMAL1 plays a direct role in telomere homeostasis by regulating rhythms in TERRA and heterochromatin. Loss of these rhythms may contribute to telomere erosion during aging., Competing Interests: The authors declare no competing interests exist.
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- 2019
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14. Physical Therapy Outcome Measures for Assessment of Lower Extremity Chronic Pain-Related Function in Pediatrics.
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Mirek E, Logan D, Boullard K, Hall AM, Staffa SJ, and Sethna N
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- Adolescent, Canada, Child, Cross-Sectional Studies, Female, Humans, Male, Outcome Assessment, Health Care, Pediatrics, Retrospective Studies, Chronic Pain physiopathology, Disability Evaluation, Lower Extremity physiopathology, Physical Therapy Modalities standards
- Abstract
Purpose: To assess the clinical utility of 5 physical therapy (PT) outcome measures in quantifying functional changes in pediatric lower extremity chronic pain treated at a hospital-based interdisciplinary rehabilitation center., Design: This was a cross-sectional study with retrospective review of 173 individuals, 8 to 18 years old, treated from June 2008 to 2013., Methods: The measures used were the Timed Up and Go, Timed Up and Down Stairs, Bruininks-Oseretsky Test of Motor Proficiency, Second Edition, 6-minute walk test, and Lower Extremity Functional Scale. Participant performance was correlated with demographic characteristics, the Functional Disability Index, Multidimensional Anxiety Scale for Children, Child Depression Inventory, and Canadian Occupational Performance Measure., Results: Scores from all 5 PT measures showed significant improvement following treatment. Functional Disability Index correlated to every PT measure except the 6-minute walk test., Conclusions: This study supports the clinical use of these PT measures to track functional progress after rehabilitative treatment of lower extremity chronic pain-related disability.
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- 2019
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15. The influence of motor ability rehabilitation on temporal-spatial parameters of gait in Huntington's disease patients on the basis of a three-dimensional motion analysis system: An experimental trial.
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Mirek E, Filip M, Chwała W, Szymura J, Pasiut S, Banaszkiewicz K, Bar MR, and Szczudlik A
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- Activities of Daily Living, Female, Gait, Humans, Male, Walking, Gait Disorders, Neurologic etiology, Huntington Disease complications
- Abstract
Objective: There is no existing standard, evidence-based, scientific model for motor ability improvement in Huntington's Disease (HD) patients aimed at maintaining independent gait for as long as possible, or performing activities of daily living, the effectiveness of which would be supported by the results of studies using objective research tools. Under these circumstances, the aim of this study was to analyze the influence of motor ability rehabilitation on the spatial-temporal parameters of gait in HD patients., Design: It was an experimental trial. The studied group consisted of 30 patients (17 women and 13 men) with HD. In hospital conditions, the patients participated in the 3-week motor ability l rehabilitation programme tailored to individual needs. The study group was tested using the Vicon 250 three-dimensional gait analysis system before and after the physical exercise programme., Results: Walking speed after therapy increased for the left lower limb from 1.06 (SD 0.24) [m/s] to 1.21 (SD 0.23) [m/s], and for the right lower limb from 1.07 (SD 0.25) [m/s] to 1.20 (SD 0.25) [m/s]. The cycle length increased after the applied therapy for the left lower limb from 1.17 (SD 0.20) [m] to 1.23 (SD 0.19) [m]., Conclusion: The three-week motor ability rehabilitation programme positively influences spatial-temporal gait parameters in HD patients., (Copyright © 2018 Polish Neurological Society. Published by Elsevier Sp. z o.o. All rights reserved.)
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- 2018
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16. Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function.
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Salazar R, Montes J, Dunaway Young S, McDermott MP, Martens W, Pasternak A, Quigley J, Mirek E, Glanzman AM, Civitello M, Gee R, Duong T, Mazzone ES, Main M, Mayhew A, Ramsey D, Muni Lofra R, Coratti G, Fanelli L, De Sanctis R, Forcina N, Chiriboga C, Darras BT, Tennekoon GI, Scoto M, Day JW, Finkel R, Muntoni F, Mercuri E, and De Vivo DC
- Subjects
- Adult, Female, Humans, Male, Contracture physiopathology, Hip Joint physiopathology, Knee Joint physiopathology, Lower Extremity physiopathology, Motor Disorders physiopathology, Muscular Atrophy, Spinal physiopathology, Range of Motion, Articular physiology
- Abstract
Purpose: To quantitatively describe passive lower extremity range of motion in participants with spinal muscular atrophy (SMA) types 2 and 3, and to establish preliminary thresholds to identify individuals at risk for performing poorly on disease-specific motor function outcome measures., Methods: Eighty participants with SMA types 2 and 3, enrolled in an international multicenter natural history study, were evaluated with lower extremity range of motion testing and the Hammersmith Functional Motor Scale-Expanded., Results: A hip extension joint angle of -7.5° or less for SMA type 2 and 0° or less for SMA type 3 identified diminished motor ability with good sensitivity. For knee extension, a joint angle of -9.0° or less for SMA type 2 or 0° or less for SMA type 3 was similarly sensitive., Conclusions: Minimal hip and knee joint contractures were associated with diminished motor ability. Clinical trial designs should consider the effect of contractures on motor function.
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- 2018
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17. Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.
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Montes J, McDermott MP, Mirek E, Mazzone ES, Main M, Glanzman AM, Duong T, Young SD, Salazar R, Pasternak A, Gee R, De Sanctis R, Coratti G, Forcina N, Fanelli L, Ramsey D, Milev E, Civitello M, Pane M, Pera MC, Scoto M, Day JW, Tennekoon G, Finkel RS, Darras BT, Muntoni F, De Vivo DC, and Mercuri E
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Disease Progression, Female, Follow-Up Studies, Humans, Male, Middle Aged, Prospective Studies, Walk Test, Young Adult, Aging physiology, Muscular Atrophy, Spinal physiopathology, Walking physiology
- Abstract
Individuals with spinal muscular atrophy (SMA) type 3 are able to walk but they have weakness, gait impairments and fatigue. Our primary study objective was to examine longitudinal changes in the six-minute walk test (6MWT) and to evaluate whether age and SMA type 3 subtype are associated with decline in ambulatory function. Data from three prospective natural history studies were used. Seventy-three participants who performed the 6MWT more than once, at least 6 months apart, were included; follow-up ranged from 0.5-9 years. Only data from patients who completed the 6MWT were included. The mean age of the participants was 13.5 years (range 2.6-49.1), with 52 having disease onset before age 3 years (type 3A). At baseline, type 3A participants walked a shorter distance on average (257.1 m) than type 3B participants (390.2 m) (difference = 133.1 m, 95% confidence interval [CI] 71.8-194.3, p < 0.001). Distance walked was weakly associated with age (r = 0.25, p = 0.04). Linear mixed effects models were used to estimate the mean annual rate of change. The overall mean rate of change was -7.8 m/year (95% CI -13.6 --2.0, p = 0.009) and this did not differ by subtype (type 3A: -8.5 m/year, type 3B: -6.6 m/year, p = 0.78), but it did differ by age group (< 6: 9.8 m/year; 6-10: -7.9 m/year; 11-19: -20.8 m/year; ≥ 20: -9.7 m/year; p = 0.005). Our results showed an overall decline on the 6MWT over time, but different trajectories were observed depending on age. Young ambulant SMA patients gain function but in adolescence, patients lose function. Future clinical trials in ambulant SMA patients should consider in their design the different trajectories of ambulatory function over time, based on age., Competing Interests: The authors have declared that no competing interests exist.
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- 2018
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18. Three-Dimensional Trunk and Lower Limbs Characteristics during Gait in Patients with Huntington's Disease.
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Mirek E, Filip M, Chwała W, Banaszkiewicz K, Rudzinska-Bar M, Szymura J, Pasiut S, and Szczudlik A
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Objective: A number of studies on gait disturbances have been conducted, however, no clear pattern of gait disorders was described. The aim of the study was to characterize the gait pattern in HD patients by conducting analysis of mean angular movement changes the lower limb joints and trunk (kinematics parameters). Methods: The study group consisted of 30 patients with HD (17 women and 13 men). The reference data include the results of 30 healthy subjects (17 women and 13 men). Registration of gait with the Vicon 250 system was performed using passive markers attached to specific anthropometric points directly on the skin, based on the Golem biomechanical model (Oxford Metrics Ltd.). The research group and the control group were tested once. Results: Statistically significant ( p < 0.05) angular changes in gait cycle for HD patients were observed in: insufficient plantar flexion during Loading Response and Pre-swing phases; insufficient flexion of the knee joint during Initial Swing and Mid Swing phases; excessive flexion of the hip in Terminal Stance and Pre-swing phases and over-normative forward inclination of the trunk in all gait phases. It should be noted that the group of patients with HD obtained, for all the mean angular movement changes higher standard deviation. Conclusion: A characteristic gait disorder common to all patients with HD occurring throughout the whole duration of the gait cycle is a pathological anterior tilt of the trunk. The results will significantly contribute to programming physiotherapy for people with HD, aimed at stabilizing the trunk in a position of extension during gait.
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- 2017
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19. Eye movements in essential tremor patients with parkinsonian and cerebellar signs.
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Wójcik-Pędziwiatr M, Mirek E, Rudzińska-Bar M, and Szczudlik A
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- Adult, Aged, Aged, 80 and over, Case-Control Studies, Cerebellar Ataxia epidemiology, Cerebellar Ataxia physiopathology, Cerebellar Diseases epidemiology, Essential Tremor epidemiology, Eye Movement Measurements, Eye Movements, Female, Fixation, Ocular physiology, Gait Disorders, Neurologic epidemiology, Gait Disorders, Neurologic physiopathology, Humans, Male, Middle Aged, Ocular Motility Disorders epidemiology, Parkinsonian Disorders epidemiology, Pursuit, Smooth physiology, Saccades physiology, Cerebellar Diseases physiopathology, Essential Tremor physiopathology, Ocular Motility Disorders physiopathology, Parkinsonian Disorders physiopathology
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Apart from intention tremor essential tremor (ET) patients may display other cerebellar signs, like dysmetria or tandem gait disturbances as well as parkinsonian signs like resting tremor, cogwheel sign, subtle bradykinesia. Previous reports claimed the occurrence of the eye movement abnormalities characteristic for dysfunction of cerebellar dorsal vermis in ET patients with concomitant cerebellar signs. There are no previous reports evaluating the eye movement abnormalities in ET patients with concomitant parkinsonian signs. The objective of this study was to determine the relationship between the occurrence of parkinsonian and cerebellar signs and the oculomotor abnormalities in ET patients., Method: Fifty ET patients including 6 (12.0%) patients with concomitant parkinsonian signs (ET-P), 20 (40.0%) patients with cerebellar signs (ET-C), 7 (14.0%) with mixed parkinsonian and cerebellar signs (ET-M), 17 (34.0%) patients with the only tremor (ET-T) together with 42 healthy controls were included to the study. Reflexive, pace-induced and cued saccades were recorded using Saccadometer Advanced. Smooth pursuit and fixation were tested using EOG., Results: Latency of pace-induced saccades was significantly longer in ET-C and ET-M patients compared to ET-T and ET-P patients. Latency of cued saccades was significantly longer in ET-M patients compared to ET-T. There were no significant differences of the eye movement parameters between ET-P patients compared to ET-T patients., Conclusion: In ET patient with concomitant cerebellar signs prolonged volitional saccades latency was detected. There are no particular differences in the eye movements in ET patients with concomitant parkinsonian signs compared to ET patients without concomitant signs., (Copyright © 2017 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.)
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- 2017
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20. Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.
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Ramsey D, Scoto M, Mayhew A, Main M, Mazzone ES, Montes J, de Sanctis R, Dunaway Young S, Salazar R, Glanzman AM, Pasternak A, Quigley J, Mirek E, Duong T, Gee R, Civitello M, Tennekoon G, Pane M, Pera MC, Bushby K, Day J, Darras BT, De Vivo D, Finkel R, Mercuri E, and Muntoni F
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Disease Progression, Female, Humans, Infant, Male, Middle Aged, Mobility Limitation, Motor Activity, Pilot Projects, Psychometrics, Young Adult, Outcome Assessment, Health Care methods, Severity of Illness Index, Spinal Muscular Atrophies of Childhood
- Abstract
Recent translational research developments in Spinal Muscular Atrophy (SMA), outcome measure design and demands from regulatory authorities require that clinical outcome assessments are 'fit for purpose'. An international collaboration (SMA REACH UK, Italian SMA Network and PNCRN USA) undertook an iterative process to address discontinuity in the recorded performance of the Hammersmith Functional Motor Scale Expanded and developed a revised functional scale using Rasch analysis, traditional psychometric techniques and the application of clinical sensibility via expert panels. Specifically, we intended to develop a psychometrically and clinically robust functional clinician rated outcome measure to assess physical abilities in weak SMA type 2 through to strong ambulant SMA type 3 patients. The final scale, the Revised Hammersmith Scale (RHS) for SMA, consisting of 36 items and two timed tests, was piloted in 138 patients with type 2 and 3 SMA in an observational cross-sectional multi-centre study across the three national networks. Rasch analysis demonstrated very good fit of all 36 items to the construct of motor performance, good reliability with a high Person Separation Index PSI 0.98, logical and hierarchical scoring in 27/36 items and excellent targeting with minimal ceiling. The RHS differentiated between clinically different groups: SMA type, World Health Organisation (WHO) categories, ambulatory status, and SMA type combined with ambulatory status (all p < 0.001). Construct and concurrent validity was also confirmed with a strong significant positive correlation with the WHO motor milestones rs = 0.860, p < 0.001. We conclude that the RHS is a psychometrically sound and versatile clinical outcome assessment to test the broad range of physical abilities of patients with type 2 and 3 SMA. Further longitudinal testing of the scale with regards change in scores over 6 and 12 months are required prior to its adoption in clinical trials.
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- 2017
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21. Assessment of Gait Therapy Effectiveness in Patients with Parkinson's Disease on the Basis of Three-Dimensional Movement Analysis.
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Mirek E, Kubica JL, Szymura J, Pasiut S, Rudzińska M, and Chwała W
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Objective: The aim of this study was to assess the effect of physical exercise on gait pattern disorders, based on three-dimensional gait analysis in the sagittal plane in a group of people with Parkinson's disease (PD)., Methods: Thirty-two subjects with PD (14 women and 18 men; age: 50-75 years) were qualified for the study, which ran for 3 weeks and included 18 therapeutic sessions. Thirty-five control subjects were included in the research (13 women and 19 men; age: 52-77 years). Gait analysis using the Vicon 3D system took place in the Biokinetics Laboratory. The research group was tested before and after treatment, and the control group was tested once., Results: Comparing the average peak angle changes and average standard time results (% gait cycle) corresponding with angles of movement in the lumbar spine, cervical spine, elbow joint, and shoulder joint, statistically significant changes were observed. The study results are indicative of differences in spatiotemporal parameters and angular changes in gait for both groups. After therapeutic treatment, we observed improvement in the angular range of changes in thorax tilting, but there were no difference between the most affected and less affected side. For the cervical spine, a significant reduction in flexion during dual support was observed. The angular range of changes in shoulder joint was significant only in less affected shoulder during the initial contact (F1), terminal stance (F4), and terminal stance (F8) phases of gait (p < 0.05). After therapeutic treatment, significant angle and setting changes in the most affected limb of the elbow joint occurred during the initial contact and terminal swing phases (F1, F8). In the terminal stance phase (F4), an increase in range of motion by about ±4° was observed (p < 0.05)., Conclusion: Exercise therapy slightly increased the range of movement in the examined joints of PD's patients. Results of pathological walking patterns occurring prior to treatment improved after treatment and moved closer to the physiological gait pattern.
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- 2016
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22. Neurologic Music Therapy Training for Mobility and Stability Rehabilitation with Parkinson's Disease - A Pilot Study.
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Bukowska AA, Krężałek P, Mirek E, Bujas P, and Marchewka A
- Abstract
Idiopathic Parkinson's Disease (PD) is a progressive condition with gait disturbance and balance disorder as the main symptoms. Previous research studies focused on the application of Rhythmic Auditory Stimulation (RAS) in PD gait rehabilitation. The key hypothesis of this pilot study, however, assumes the major role of the combination of all three Neurologic Music Therapy (NMT) sensorimotor techniques in improving spatio-temporal gait parameters, and postural stability in the course of PD. The 55 PD-diagnosed subjects invited to the study were divided into two groups: 30 in the experimental and 25 in the control group. Inclusion criteria included Hoehn and Yahr stages 2 or 3, the ability to walk independently without any aid and stable pharmacological treatment for the duration of the experiment. In order to evaluate the efficacy of the chosen therapy procedure the following measures were applied: Optoelectrical 3D Movement Analysis, System BTS Smart for gait, and Computerized Dynamic Posturography CQ Stab for stability and balance. All measures were conducted both before and after the therapy cycle. The subjects from the experimental group attended music therapy sessions four times a week for 4 weeks. Therapeutic Instrumental Music Performance (TIMP), Pattern Sensory Enhancement (PSE) and RAS were used in every 45-min session for practicing daily life activities, balance, pre-gait, and gait pattern. Percussion instruments, the metronome and rhythmic music were the basis for each session. The subjects from the control group were asked to stay active and perform daily life activities between the measures. The research showed that the combination of the three NMT sensorimotor techniques can be used to improve gait and other rhythmical activities in PD rehabilitation. The results demonstrated significant improvement in the majority of the spatiotemporal gait parameters in the experimental group in comparison to the control group. In the stability tests with eyes closed, substantial differences were revealed, indicating improvement of proprioception (the sense of body position and movement). These findings suggest a new compensatory strategy for movement and postural control through the use of the auditory system.
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- 2016
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23. The effects of physiotherapy with PNF concept on gait and balance of patients with Huntington's disease - pilot study.
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Mirek E, Filip M, Banaszkiewicz K, Rudzińska M, Szymura J, Pasiut S, Stożek J, and Szczudlik A
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- Adult, Aged, Exercise Test, Humans, Middle Aged, Pilot Projects, Treatment Outcome, Young Adult, Gait physiology, Huntington Disease rehabilitation, Muscle Stretching Exercises methods, Postural Balance physiology
- Abstract
Background and Purpose: Huntington's disease (HD) is a neurodegenerative, progressive disorder of the central nervous system which causes significant gait and balance disturbances. This is a pilot study which aims to determine the effects of a physiotherapy programme with use of Proprioceptive Neuromuscular Facilitation (PNF) on gait and balance in HD patients., Material and Methods: 30 HD patients aged 21-60 with genetically confirmed diagnosis participated in the study. Participants followed a 3-week-long PNF-based physiotherapy programme. Gait and balance were evaluated twice in each participant: first at baseline and then after the course of physiotherapy. The following methods were used for gait disturbances: Tinetti Gait Assessment Tool, Up and Go Test, Timed Walking Tests for 10m and 20m (TWT10m, TWT20m). Balance was assessed with use of Berg Balance Scale, Pastor Test and Functional Reach Test., Results: There was a significant improvement in all measures of balance and gait., Conclusion: PNF-based physiotherapy is effective and safe in HD patients., (Copyright © 2015 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.)
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- 2015
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24. Secondary prevention in patients after hospitalisation due to coronary artery disease: what has changed since 2006?
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Jankowski P, Czarnecka D, Lysek R, Skrzek A, Smaś-Suska M, Mazurek A, Brzozowska-Kiszka M, Wolfshaut-Wolak R, Surowiec S, Bogacki P, Bryniarska-Mirek E, Bryniarski L, Grodecki J, Nessler J, Olszowska M, Podolec P, Kawecka-Jaszcz K, and Pająk A
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- Adrenergic beta-Antagonists therapeutic use, Aged, Angiotensin-Converting Enzyme Inhibitors therapeutic use, Female, Forecasting, Humans, Hypertension drug therapy, Hypolipidemic Agents therapeutic use, Male, Middle Aged, Platelet Aggregation Inhibitors therapeutic use, Poland, Retrospective Studies, Risk Factors, Secondary Prevention statistics & numerical data, Coronary Artery Disease drug therapy, Coronary Artery Disease prevention & control, Myocardial Ischemia prevention & control, Practice Guidelines as Topic, Secondary Prevention standards, Secondary Prevention trends
- Abstract
Background: The evidence concerning the quality of secondary prevention of coronary artery disease (CAD) in Poland in recent years is scarce., Aim: To compare the implementation of secondary prevention guidelines into everyday clinical practice between 2006-2007 and 2011-2012 in patients after hospitalisation due to CAD., Methods: Five hospitals with departments of cardiology serving a city and its surrounding districts in the southern part of Poland participated in the study. Consecutive patients aged ≤ 80 years, hospitalised from April 1, 2005 to July 31, 2006 (first survey) and from April 1, 2010 to June 30, 2011 (second survey) due to acute coronary syndrome or for a myocardial revascularisation procedure were recruited and interviewed 6-18 months after hospitalisation., Results: Medical records of 640 patients were reviewed and included in the first survey and 466 in the second survey. The proportion of medical records with available information on smoking did not differ between the surveys, whereas the proportion of medical records with available information on blood pressure and total cholesterol was lower in patients hospitalised in 2010-2011. The prescription rate of β-blockers at discharge decreased from 90% to 84% (p < 0.05), whereas the prescription rates at discharge of other drug classes did not change significantly. The proportion of patients with high blood pressure (≥ 140/90 mm Hg) one year after hospitalisation decreased in 2011-2012 compared to 2006-2007 (from 48% to 35%, p < 0.05), whereas the proportion of subjects with high LDL cholesterol, high fasting glucose, and obesity did not change significantly. We did not note a significant difference in the smoking rate. The proportions of patients taking an antiplatelet agent (90% vs. 91%), a β-blocker (87% vs. 79%), an ACE inhibitor or a sartan (79% vs. 76%), a calcium antagonist (22% vs. 25%), a diuretic (35%vs. 45%), and a lipid-lowering drug (86% vs. 87%) one year after discharge did not change significantly (all p > 0.05)., Conclusions: We noted a modest improvement in the implementation of CAD secondary prevention guidelines in everyday clinical practice: blood pressure was better controlled, although the control of all other main risk factors did not change significantly. Our data provides evidence that there is a considerable potential for further reduction of cardiovascular risk in CAD patients.
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- 2014
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25. The incidence and risk factors of falls in Parkinson disease: prospective study.
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Rudzińska M, Bukowczan S, Stożek J, Zajdel K, Mirek E, Chwała W, Wójcik-Pędziwiatr M, Banaszkiewicz K, and Szczudlik A
- Subjects
- Accidental Falls prevention & control, Aged, Causality, Comorbidity, Female, Gait, Gait Disorders, Neurologic prevention & control, Humans, Incidence, Male, Middle Aged, Poland, Prospective Studies, Reference Values, Risk Assessment, Risk Factors, Accidental Falls statistics & numerical data, Activities of Daily Living, Gait Disorders, Neurologic epidemiology, Parkinson Disease epidemiology, Severity of Illness Index
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Background and Purpose: Although Parkinson disease (PD) patients suffer falls more frequently than other old people, only a few studies have focused on identifying the specific risk factors for falls in PD patients. The aim of this study was to assess the incidence and risk factors of falls in a prospective study in comparison to a control group., Material and Methods: One hundred patients with PD were recruited to the study along with 55 gender- and age-matched healthy controls. Both groups were examined twice; the second examination took place one year after the first one. Examination of the PD group included: medical history including falls, neurological examination, assessment of the severity of parkinsonism [Unified Parkinson's Disease Rating Scale (UPDRS), Schwab and England scale (S and E), Hoehn and Yahr scale (H and Y), Mini-Mental State Examination (MMSE)], Hamilton scale and quality of life scales (SF-36, EQ-5D) and Freezing of Gait Questionnaire (FOG-Q). In both groups falls were recorded over the 12 months. Frequent fallers are defined as having more than 3 falls a year., Results: Over the year falls occurred in 54% of PD patients and 18% of controls. In a prospective study 28% of PD patients fell more frequently than in retrospective analysis. Frequent fallers were found in 20% of patients and in 7% of controls. Fallers showed higher scores in UPDRS, H and Y, S and E, MMSE, and Hamilton scale than non-fallers. Independent risk factors for falls were: age, previously reported falls and higher score in the FOG-Q., Conclusions: Falls in PD patients occurred three times more frequently than in controls. Independent risk factors for falls were: high score in FOG-Q, older age and presence of falls in medical history.
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- 2013
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26. Causes and consequences of falls in Parkinson disease patients in a prospective study.
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Rudzińska M, Bukowczan S, Stożek J, Zajdel K, Mirek E, Chwała W, Wójcik-Pędziwiatr M, Banaszkiewicz K, and Szczudlik A
- Subjects
- Aged, Female, Gait Disorders, Neurologic prevention & control, Humans, Male, Middle Aged, Poland, Prospective Studies, Reference Values, Risk Assessment, Risk Factors, Accidental Falls prevention & control, Activities of Daily Living, Gait Disorders, Neurologic etiology, Muscle Weakness, Parkinson Disease complications, Severity of Illness Index
- Abstract
Background and Purpose: Falls are common events in Parkinson disease (PD) but only a few prospective studies have focused on causes and consequences of falls in PD patients. The aim of the study was prospective analysis of direct causes and consequences of falls in PD patients in comparison to the control group., Material and Methods: One hundred PD patients and 55 age-matched controls were enrolled in the study. The diagnostic workup in all patients included neurological examination, Unified Parkinson's Disease Rating Scale, magnetic resonance imaging, electroencephalography, ultrasonography, otolaryngological, ophthalmological and autonomic function examination. During 12 months of follow-up, falls were registered in both groups, direct causes were classified according to the St. Louis and Olanow classification, and consequences were established., Results: Falls occurred in 54% of PD patients and in 18% of control subjects. Analysis of direct causes of falls revealed that sudden falls were the most common (31%), followed by episodes of freezing and festination (19.6%), neurological and sensory disturbances (mostly vertigo) (12%), environmental factors (12%), postural instability (11%), orthostatic hypotension (4%), and severe dyskinesia (3.6%); 6.19% of falls were unclassified; 22% of patients had the same etiology of subsequent falls. In PD patients, intrinsic factors were dominant, whereas in the control group intrinsic and extrinsic factors occurred with the same frequency. Every third fall intensified fear of walking. 34% of falls caused injuries; among them bruises of body parts other than the head were most frequent., Conclusions: Intrinsic factors are the most common causes of falls in PD. Every third fall intensifies fear of walking and causes injuries.
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- 2013
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27. Age, sex, and secondary prevention of ischaemic heart disease in everyday practice.
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Jankowski P, Czarnecka D, Wolfshaut-Wolak R, Łysek R, Łukaszewska A, Surowiec S, Loster M, Bogacki P, Bryniarska-Mirek E, Grodecki J, Nessler J, Podolec P, Kawecka-Jaszcz K, and Pająk A
- Subjects
- Age Factors, Aged, Comorbidity, Female, Follow-Up Studies, Hospitalization, Humans, Hypertension epidemiology, Male, Middle Aged, Multivariate Analysis, Myocardial Ischemia epidemiology, Myocardial Ischemia surgery, Myocardial Revascularization, Poland epidemiology, Retrospective Studies, Risk Factors, Sex Factors, Smoking epidemiology, Myocardial Ischemia prevention & control, Practice Patterns, Physicians' statistics & numerical data, Secondary Prevention methods, Secondary Prevention statistics & numerical data
- Abstract
Background: Many researchers have studied age- and sex-related differences in the management of patients with coronary artery disease. However, the results are inconsistent., Aim: To assess sex- and age-related bias in the secondary prevention in patients hospitalised due to ischaemic heart disease., Methods: Five hospitals with departments of cardiology serving a city and surrounding districts in southern Poland participated in the study. Consecutive patients hospitalised from 1 April 2005 to 31 July 2006 due to acute coronary syndrome or for a myocardial revascularisation procedure and aged ≤ 80 years were recruited and interviewed 6-18 months after hospitalisation., Results: The hospital records of 640 patients were reviewed and 513 (80.2%) patients participated in the follow-up interview. Women were older and less educated than their male counterparts. Sex was not independently associated with the control of major risk factors in the post-discharge period, whereas age was related to a higher probability of having high blood pressure and a lower chance of smoking. Multivariate analysis showed that females were prescribed calcium antagonists (odds ratio [OR] 2.13; 95% confidence intervals [CI] 1.34-3.39) and diuretics (OR 1.52; 95% CI 1.00-2.31) more often than males. Age was independently related to the prescription rate of diuretics (≥ 70 years vs. < 60 years; OR 1.61; 95% CI 1.19-2.20). The prescription rate of antiplatelets, beta-blockers, angiotensin converting enzyme-inhibitors/sartans, lipid-lowering drugs, and anticoagulants was not related to age or sex., Conclusions: We found no major sex-related difference in the frequency of achieving recommended goals in secondary prevention, whereas age was related to a lower prevalence of smoking and a higher probability of having high blood pressure in subjects after hospitalisation for coronary artery disease.
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- 2013
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28. Falls in different types of Parkinson's disease.
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Rudzińska M, Marona M, Bukowczan S, Banaszkiewicz K, Mirek E, and Szczudlik A
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- Aged, Female, Humans, Male, Middle Aged, Severity of Illness Index, Accidental Falls statistics & numerical data, Gait Disorders, Neurologic etiology, Parkinson Disease complications, Postural Balance, Tremor etiology
- Abstract
Background and Purpose: Intrinsic factors are the main cause of falls in Parkinson's disease (PD). The relation between different symptoms or type of PD and frequency of falls has been unclear so far. The aim of the study was to assess the frequency and causes of falls in postural instability and gait difficulty dominant PD (PIGD) and tremor dominant PD (TD)., Material and Methods: The study was performed in 106 patients (51% were women; mean age: 67.7+/-9.8 years; mean disease duration: 6.3+/-3.5 years). The type of the disease was defined according to subscore of UPDRS concerning postural instability, gait difficulty and tremor assessment. The two groups were compared in regard to number and causes of falls, gender, age, disease duration, age at the onset of the disease, UPDRS score, Hoehn and Yahr stage, Schwab and England score, the occurrence of dyskinesia, fluctuations, mental function (MMSE) and depressive mood., Results: There were 76 patients (71.6%) in the PIGD group and 21 (19.8%) in the TD group. There were no significant differences between PIGD and TD regarding age, gender, disease duration, age at the onset of the disease, UPDRS score, Hoehn and Yahr stage, Schwab and England score, mental status and depression. Dyskinesia, fluctuations and gait disorders occurred more often in PIGD. Falls were significantly more common in PIGD-PD (57.9%) than in TD-PD (23.8%) (p=0.03). The number of falls in PIGD- -PD was significantly higher than in TD-PD (mean number of falls in PIGD-PD 3.6+/-6.0 and in T-PD 0.6+/-1.8, p=0.02). Sudden falls were the main cause of falls in both groups., Conclusions: PIGD patients are significantly more predisposed to falls.
- Published
- 2007
29. The assessment of gait disorders in patients with Parkinson's disease using the three-dimensional motion analysis system Vicon.
- Author
-
Mirek E, Rudzińska M, and Szczudlik A
- Subjects
- Aged, Case-Control Studies, Diagnosis, Computer-Assisted, Female, Gait Disorders, Neurologic etiology, Humans, Male, Middle Aged, Range of Motion, Articular, Gait Disorders, Neurologic diagnosis, Imaging, Three-Dimensional instrumentation, Parkinson Disease complications
- Abstract
Background and Purpose: Gait disorders are a common symptom of Parkinson's disease (PD) and can occur in the early stage of the disease. The most characteristic gait disorders in that disease affect pace and cadence. This study was designed to assess spatiotemporal and kinematic gait parameters of patients with PD using the three-dimensional motion analysis system Vicon., Material and Methods: 32 patients (14 women and 18 men; age range: 50-75) treated for PD in the Department of Neurology were studied. The control group consisted of 32 healthy persons (13 women and 19 men, age range: 52-77). Gait analysis using the Vicon 3D system took place in the Biokinetics Laboratory in the Academy of Physical Education in Kraków. The Vicon 3D system enables computerized registration and analysis of motion in three-dimensional space., Results: The analysis of basic spatiotemporal parameters of gait revealed that PD patients had considerably lower walking speed, stride length and cadence and longer time of double support than controls. The assessment of kinematic gait parameters showed that PD patients had decreased motion range in the joints of the lower limbs and began the double support phase earlier and delayed the swing phase when compared to healthy controls., Conclusion: Our study shows a difference between PD patients and healthy controls at similar age both in angle changes and in spatiotemporal parameters of gait.
- Published
- 2007
30. [Proprioceptive neuromuscular facilitation method of therapeutic rehabilitation in the treatment of patients with Parkinson disease].
- Author
-
Mirek E, Chwała W, Longawa K, Rudzińska M, Adamkiewicz P, and Szczudlik A
- Subjects
- Aged, Biomechanical Phenomena, Female, Humans, Male, Middle Aged, Parkinson Disease rehabilitation, Severity of Illness Index, Movement Disorders diagnosis, Neuromuscular Junction physiology, Parkinson Disease physiopathology, Parkinson Disease therapy, Proprioception physiology
- Abstract
Planning and verification of progress of efficacious physiotherapeutic effect on Parkinson's disease depends notably on the right identification of areas and scope of dysfunction of motoric systems. Biomechanical evaluation of motoric organ disability made by means of three-dimensional motion analysis using the "Vicon" system can make it considerably easier. A sample of three patients (two women and one man of average age of sixty-four) with idiopathic parkinsonism has been examined for the purpose of this evaluation. Based upon results of the three-dimensional motion analysis of these patients, dominant individual movement disorders were determined and individual therapeutic rehabilitation using the PNF method was planned. Within therapy, using the PNF method, they applied special techniques using motor patterns for the pelvis, upper and lower limbs in order to improve movement through an approach of assessed parameters to the biomechanical standard. After three weeks of therapy, specific characteristics of gait were examined again. On the basis of research results before therapy, it was found that these patients had none or limited scope of plantar flexion of feet, excessive dorsal flexion of feet, lengthened duration of stance phase, considerable excessive external rotation of shanks and excessive anteversion of the pelvis during gait cycle. Also big differences in values for spatiotemporal parameters (such as walking speed and frequency, stride length and time of single limb support) between the patients and healthy people were observed. After therapy, there has not been a marked variability in the scope of angular changes to the above-mentioned dysfunction. Only proportions between the duration of stance phase and swing phase have improved noticeably, so that they have directly resulted in better rhythm of gait. They have considerably approached the standards of frequency and speed (p = 0.05). However, stride length and duration of single limb support has not changed significantly.
- Published
- 2003
31. [Stanols--a new perspective in treatment of hypercholesterolemia?].
- Author
-
Jankowski P, Bilo G, Bryniarski L, Bryniarska-Mirek E, and Pajak A
- Subjects
- Aged, Cardiovascular Diseases etiology, Cardiovascular Diseases prevention & control, Cholesterol pharmacokinetics, Cholesterol, LDL drug effects, Cholesterol, LDL pharmacokinetics, Diabetes Mellitus, Type 2 complications, Female, Humans, Hypercholesterolemia complications, Intestinal Absorption drug effects, Middle Aged, Postmenopause, Anticholesteremic Agents therapeutic use, Hypercholesterolemia drug therapy, Sitosterols therapeutic use
- Abstract
Since the unfavorable impact of hypercholesterolemia on the cardiovascular system has been proven, effective, inexpensive and easy to use cholesterol-lowering treatment options have been looked for. In the 1990s as the effect of a few decades of research, stanols have been introduced as new cholesterol-lowering agents. Stanols are derivates of plant sterols, which act through inhibition of intestinal cholesterol absorption. Their incorporation into normal diet fats has led to a significant reduction of both total and LDL cholesterol in investigated subjects, also in those on cholesterol-lowering diet or taking cholesterol-lowering drugs. When the dose considered optimal, i.e. 2-3 g/d, was used, the average reduction was 10% for total and 14% for LDL cholesterol. So far no adverse effects of stanols and no influence on the taste of food have been observed. The possible role of stanols in primary and secondary prevention of cardiovascular diseases still remains to be verified. It seems, however, that stanols have a potential to become a significant element in the treatment of hypercholesterolemia and in preventing its consequences.
- Published
- 2000
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