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2.
Artigo em Inglês | MEDLINE | ID: mdl-36901543

RESUMO

OBJECTIVE: Chronic Ankle Instability (CAI) or Functional Ankle Instability (FAI) is a condition characterized by laxity and mechanical instability in the ankle joint. This instability interferes with the activities and physical-functional parameters of athletes, which leads to repetitive ankle sprains. The current systematic review was carried out to identify the effects of whole-body vibration exercise (WBVE) in athletes with CAI. METHODS: We conducted electronic searches in Pubmed, the Cochrane Library, Embase, Web of Science, Scopus, Science Direct, Allied Health Literature (CINAHL) and Academic Search Premier (ASP) (EBSCO) databases on 26 February 2022. Registers were identified, and studies were selected for inclusion according to the eligibility criteria. The methodological quality was assessed by the Physiotherapy Evidence Database (PEDro) scale. RESULTS: Seven studies were included with a mean methodological quality score of 5.85, considered 'regular' quality on the PEDro scale. WBVE interventions in athletes with CAI showed that this exercise contributes to a better response on parameters of neuromuscular performance, muscle strength and consequently in balance and postural control, variables that are for the management of CAI. CONCLUSION: WBVE interventions in sports modalities promote physiological responses that may lead to positive effects in several parameters. The protocols proposed in each modality can be carried out in practice and are considered effective additional exercise and training methods beyond traditional types of training for athletes. However, more studies are needed on athletes with this condition, with specific protocols, to highlight the possible physiological and physical-functional responses. Protocol study registration: PROSPERO (CRD42020204434).


Assuntos
Tornozelo , Instabilidade Articular , Humanos , Vibração , Articulação do Tornozelo , Atletas , Força Muscular
3.
Artigo em Inglês | MEDLINE | ID: mdl-36981833

RESUMO

Human skin wounds pose a gathering threat to the public health, carrying an immense epidemiologic and financial burden. Pharmacological and non-pharmacological (NP) treatments have been proposed to the management of wound healing. Physical exercise is a strong NP intervention considered for patients in wound healing. Particularly, a type of exercise intervention known as whole-body vibration (WBV) exercise has gained increasing interest. WBV exercise is generated due to the transmission of mechanical vibrations, produced by a vibrating platform, to the body. The aim of this review was to summarize studies in experimental animal models using WBV exercise in wound healing. Searches were performed in EMBASE, PubMed, Scopus and Web of Science including publications on 21 November 2022 using the string "whole body vibration" AND "wound healing" (animal or mice or mouse or rat or rodent). The SYRCLE tool was used to assess the risk of bias (RoB). From 48 studies, five studies met the inclusion criteria. RoB indicated that none of the studies fulfilled all methodological analyzed criteria, resulting in possible biases. The studies were homogeneous, and results suggest beneficial effects of WBV exercise in wound healing, mainly related to enhancing angiogenesis, granulation tissue formation, reducing the blood glucose level and enhancing blood microcirculation, by increasing myofiber growth and rapid re-epithelialization. In conclusion, the various biological effects of the response to the WBV exercise indicate the relevance of this intervention in wound healing in animals. Moreover, considering the translation approach, it is possible to speculate that the beneficial effects of this non-pharmacological therapy might justify clinical trials for wound healing also in humans, after criterion evaluation.


Assuntos
Condicionamento Físico Animal , Vibração , Humanos , Camundongos , Ratos , Animais , Vibração/uso terapêutico , Terapia por Exercício/métodos , Cicatrização , Condicionamento Físico Animal/fisiologia
4.
J Rehabil Med ; 54: jrm00339, 2022 Oct 28.
Artigo em Inglês | MEDLINE | ID: mdl-36193697

RESUMO

OBJECTIVE: To explore the impact of improved intensive care for COVID-19 patients on the prevalence of post-intensive care syndrome (PICS). DESIGN: Ambispective cohort study. PATIENTS: Post-intensive care unit COVID-19 patients from the first and second waves of COVID-19. METHODS: Patients were evaluated at 6 months after infection. PICS was defined as the presence of a 1-min sit-to-stand test (1STS) score < 2.5th percentile or a Symbol Digit Modalities Test (SDMT) below the 2 standard deviation cut-off, or a Hospital Anxiety and Depression Scale score ≥ 11. RESULTS: A total of 60 patients were included (34 from wave 1 and 26 from wave 2). Intensive care unit management improved between waves, with shorter duration of orotracheal intubation (7 vs 23.5 days, p = 0.015) and intensive care unit stay (6 vs 9.5 days, p = 0.006) in wave 2. PICS was present in 51.5% of patients after wave 1 and 52% after wave 2 (p = 0.971). Female sex and diabetes were significantly associated with PICS by multivariate analysis. CONCLUSION: Approximately half of post-intensive care unit COVID-19 patients have 1 or more impairments consistent with PICS at 6 months, with an impact on quality of life and participation. Improved intensive care unit management was not associated with a decrease in the prevalence of PICS. Identification of patients at risk, particularly women and diabetic patients, is essential. Further studies of underlying mechanisms and the need for rehabilitation are essential to reduce the risk of PICS.


Assuntos
COVID-19 , Feminino , Humanos , Estudos de Coortes , COVID-19/epidemiologia , Cuidados Críticos , Estado Terminal , Unidades de Terapia Intensiva , Prevalência , Qualidade de Vida , Masculino
5.
Biology (Basel) ; 11(6)2022 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-35741459

RESUMO

Background: Data describing patients hospitalized in medical rehabilitation wards after the acute phase of COVID-19 could help to better understand the rehabilitation needs in the current pandemic situation. Methods: Cohort including all patients with COVID-19 hospitalized in a single, large university hospital in Northeast France from 25 February to 30 April 2020. Results: 479 patients were admitted with COVID-19 during the study period, of whom 128 died (26.7%). Among the 351 survivors, 111 were referred to rehabilitation units, including 63 (17.9%) referred to physical and rehabilitation medicine (PRM) units. The median age of patients referred to rehabilitation units was 72 years. Patients who had been in intensive care, or who had had a long hospital stay, required referral to PRM units. Two biomarkers were associated with referral to rehabilitation units, namely, elevated troponin (p = 0.03) and impaired renal function (p = 0.03). Age was associated with referral to PRM units (p = 0.001). Conclusions: Almost one-third of COVID-19 patients required post-acute care, but only one-fifth had access to PRM units. The optimal strategy for post-acute management of COVID-19 patients remains to be determined. The need for rehabilitation wards during a pandemic is a primary concern in enabling the long-term functioning of infected patients.

6.
Orphanet J Rare Dis ; 17(1): 96, 2022 03 02.
Artigo em Inglês | MEDLINE | ID: mdl-35236385

RESUMO

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension of the physiopathological mechanism. Improving our knowledge of FSHD is crucial to the development of future therapeutic trials and standards of care. National FSHD registries have been set up to this end. The French National Registry of FSHD combines a clinical evaluation form (CEF) and a self-report questionnaire (SRQ), filled out by a physician with expertise in neuromuscular dystrophies and by the patient, respectively. Aside from favoring recruitment, our strategy was devised to improve data quality. Indeed, the pairwise comparison of data from 281 patients for 39 items allowed for evaluating data accuracy. Kappa or intra-class coefficient (ICC) values were calculated to determine the correlation between answers provided in both the CEF and SRQ. RESULTS: Patients and physicians agreed on a majority of questions common to the SRQ and CEF (24 out of 39). Demographic, diagnosis- and care-related questions were generally answered consistently by the patient and the medical practitioner (kappa or ICC values of most items in these groups were greater than 0.8). Muscle function-related items, i.e. FSHD-specific signs, showed an overall medium to poor correlation between data provided in the two forms; the distribution of agreements in this section was markedly spread out and ranged from poor to good. In particular, there was very little agreement regarding the assessment of facial motricity and the presence of a winged scapula. However, patients and physicians agreed very well on the Vignos and Brooke scores. The report of symptoms not specific to FSHD showed general poor consistency. CONCLUSIONS: Patient and physician answers are largely concordant when addressing quantitative and objective items. Consequently, we updated collection forms by relying more on patient-reported data where appropriate. We hope the revised forms will reduce data collection time while ensuring the same quality standard. With the advent of artificial intelligence and automated decision-making, high-quality and reliable data are critical to develop top-performing algorithms to improve diagnosis, care, and evaluate the efficiency of upcoming treatments.


Assuntos
Distrofia Muscular Facioescapuloumeral , Médicos , Inteligência Artificial , Humanos , Distrofia Muscular Facioescapuloumeral/diagnóstico , Medidas de Resultados Relatados pelo Paciente , Sistema de Registros
8.
Ann Phys Rehabil Med ; 65(3): 101582, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-34626862

RESUMO

OBJECTIVE: The aim of this systematic review was to assess functional improvement, measured by the 6-minute walk test (6MWT) after the application of a resistance training (RT) protocol in people with chronic obstructive pulmonary disease (COPD). MATERIALS AND METHODS: The search involved the databases ClinicalTrials.gov, Cochrane Central Register of Controlled Trials, EMBASE, PubMed and Scopus from the beginning of inception to September 1, 2019. Randomized controlled trials evaluating the functional impact of RT were included. The quality of the trials was assessed with the Physiotherapy Evidence Database (PEDro) scale. Calculations were performed according to mean difference (MD) for differences between pre- and post-intervention in 6MWT distance and according to the standardized mean difference (SMD) for post-treatment results of the 6MWT and quadriceps muscle strength (QMS) improvement. RESULTS: In total, 23 studies (690 patients) met the inclusion criteria. Meta-analysis was used to compute the best improvement on the 6MWT with an analysis of improvement pre- versus post-treatment (MD 37.3, 95% confidence interval [CI] 9.8; 64.8, I2 = 86%, p = 0.008) versus post-treatment alone, intervention versus control group (MD 15.5, 95% CI -7.7; 38.6, I2 = 71%, p = 0.19). QMS was significantly improved (SMD 2.9, 95% CI 1.1; 4.7, I2 = 91%, p = 0.002). CONCLUSION: The results of the meta-analysis show a significant improvement in walking ability and performance measured by the 6MWT and an improvement in QMS for people with COPD responding to the therapy. The main limitation of this review is the significant heterogeneity across the study results. Furthermore, the statistical significance does not totally coincide with the clinical significance. RT is recommended to reduce muscle dysfunction and seems useful when combined with endurance training.


Assuntos
Doença Pulmonar Obstrutiva Crônica , Treinamento Resistido , Humanos , Força Muscular/fisiologia , Doença Pulmonar Obstrutiva Crônica/terapia , Qualidade de Vida , Teste de Caminhada
11.
J Rehabil Med ; 52(6): jrm00068, 2020 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-32451555

RESUMO

Botulinum toxins, such as abobotulinumtoxinA, are used to treat spasticity (muscle overactivity) in arm muscles. Spasticity in shoulder muscles occurs in many patients following a stroke. Shoulder spasticity can be painful and limit limb movement. This paper compares the results from patients who did and those who did not receive abobotulinumtoxinA injections in shoulder muscles (among other arm muscles) in 2 studies. In both studies, the results showed that more patients receiving treatment in shoulder muscles chose pain as a key goal for treatment and had reduced pain following treatment compared with patients not treated in the shoulder. In addition, patients receiving shoulder injections showed further improvement in arm movement compared with those not receiving shoulder injections. Overall, these results suggest that abobotulinumtoxinA treatment in shoulder muscles may improve outcomes for patients with arm spasticity involving the shoulder.


Assuntos
Inibidores da Liberação da Acetilcolina/uso terapêutico , Toxinas Botulínicas Tipo A/uso terapêutico , Espasticidade Muscular/tratamento farmacológico , Fármacos Neuromusculares/uso terapêutico , Ombro/anormalidades , Inibidores da Liberação da Acetilcolina/farmacologia , Adulto , Toxinas Botulínicas Tipo A/farmacologia , Feminino , Humanos , Injeções , Masculino , Pessoa de Meia-Idade , Fármacos Neuromusculares/farmacologia , Resultado do Tratamento
12.
J Appl Physiol (1985) ; 128(4): 934-940, 2020 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-32078471

RESUMO

Quality of life (QoL) is one of the most important health outcome concepts expressed subjectively. Chronic pain (CP) is an unpleasant sensory and emotional experience associated with actual or potential tissue damage. Taking into account the poor QoL and the CP already described in metabolic syndrome (MSy) individuals, this study aimed to evaluate the effects of whole body vibration exercises (WBVE) on these parameters in this population. Thirty-three MSy patients were divided in subgroups A [whole body vibration exercise group (WBVeG), n = 17, 15 females/2 males, 61.1 ± 8.4 yr] and B (control group, n = 16, 14 females/2 males, 58.2 ± 9.1 yr). Subgroup A performed 10 sessions (2 times/wk) of WBVE (18 min/session, with a frequency from 5 up to 14 Hz and a peak-to-peak displacement of 2.5, 5.0, and 7.5 mm) on a side-alternating vibrating platform (VP). Subgroup B did the same protocol, but the VP was turned off. The individuals answered the World Health Organization Quality of Life bref (WHOQoL-bref) questionnaire before the first and after the 10th session. The chronic pain level (CPL) was measured by a numeric rating scale (0-10) before and at the end of each session. Significant improvements were found in physical health (P = 0.05) and psychological health (P = 0.04) domains of WHOQoL-bref in WBVeG. A significant acute reduction of the CPL was found in the WBVeG after the protocol, considering the first session and at the last session. WBVE marginally improved physical health and psychological health and decrease the CPL in acute interventions.NEW & NOTEWORTHY Metabolic syndrome patients experience poor quality of life, frequently associated with lack of exercise and bad dietary habits. Additionally, factors such as obesity, neuromusculoskeletal impairment, and peripheral endothelial dysfunction result in a chronic pain level. Whole body vibration exercise might represent a suitable physical therapy, since it is easy to perform, low cost, safe, and capable of promoting an improvement of quality of life and reducing chronic pain level during acute interventions in metabolic syndrome individuals.


Assuntos
Dor Crônica , Síndrome Metabólica , Dor Crônica/terapia , Estudos Cross-Over , Feminino , Humanos , Masculino , Síndrome Metabólica/terapia , Qualidade de Vida , Vibração/uso terapêutico
13.
J Back Musculoskelet Rehabil ; 32(1): 131-139, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30248029

RESUMO

BACKGROUND: Low back pain (LBP) is the most common type of musculoskeletal pain, thus it is one of the most commonly encountered conditions in Physical and Rehabilitation Medicine. The physicians who are primarily responsible for the nonsurgical management of LBP are physiatrists. OBJECTIVE: The present study aimed to investigate the approaches of physiatrists to low back pain across Europe. Preferences, tendencies, and priorities in the diagnosis, management, and treatment of LBP, as well as the epidemiological data pertaining to LBP in PRM practice were evaluated in this Europe-wide study. METHODS: The study was conducted under the control of the European Society of Physical and Rehabilitation Medicine (ESPRM) Musculoskeletal Disorders Research Committee. A total of 576 physiatrists from most European countries participated in the survey. RESULTS: The results show that physiatrists frequently deal with patients with LBP in their daily practice. Most patients are not referred to other departments and are treated with various conservative methods. Less than one-fifth of patients are primarily referred for surgery. The physiatrists believe that a clear diagnosis to account for cases of low back pain is rarely established. The most common diagnosis is discopathy. History and physical examination remain the most valuable clinical evaluation tools for low back pain according to physiatrists. Less than half the patients require a magnetic resonance imaging. Non-steroidal anti-inflammatory drugs are the most commonly prescribed drugs for low back pain. Exercise, back care information, and physical therapy are the preferred conservative treatments. More than half of the physiatrists offer interventional treatments to patients with low back pain. CONCLUSION: The present study is a preliminary report that presents the attitudes of European physiatrists in the management of low back pain. Further researches are warranted to standardize the conservative management of LBP.


Assuntos
Dor Lombar/terapia , Fisiatras , Padrões de Prática Médica/estatística & dados numéricos , Adulto , Anti-Inflamatórios não Esteroides/uso terapêutico , Estudos Transversais , Europa (Continente) , Feminino , Humanos , Masculino , Anamnese , Pessoa de Meia-Idade , Exame Físico , Modalidades de Fisioterapia/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos , Inquéritos e Questionários , Adulto Jovem
14.
BMJ Open ; 8(8): e020915, 2018 08 30.
Artigo em Inglês | MEDLINE | ID: mdl-30166290

RESUMO

INTRODUCTION: Home-based self-rehabilitation programmes combined with botulinum toxin injections (BTIs) appear to be a relevant approach to increase the recommended intensive rehabilitation of patients with spasticity following a stroke. The literature highlights a lack of evidence of beneficial effects of this adjuvant therapy to reduce limitations of patients with stroke. The aim of this study is to assess the effects of a 6-month self-rehabilitation programme in adjunction to BTI, in comparison with BTI alone, to reduce limitations of patients with spasticity following a stroke. METHODS AND ANALYSIS: 220 chronic patients will participate to this multicentre, prospective, randomised, controlled, assessor blinded study. All patients will benefit from two successive BTI (3 months apart), and patients randomised in the self-rehabilitation group will perform in adjunction 6 months of self-rehabilitation at home. All patients continue their conventional physiotherapy. The main outcome is the primary treatment goal (PTG), which will be determined jointly by the patient and the medical doctor using Goal Attainment Scaling. Impairments and functions, quality of life, mood and fatigue will be assessed. Botulinum toxin will be injected into the relevant muscles according to the PTG. Patients in the self-rehab group will be taught the self-rehabilitation programme involving respectively 10 min of stretching, 10 min of strengthening and 10 min of task-oriented exercises, corresponding to their PTG. Compliance to the self-rehabilitation programme will be monitored. ETHICS AND DISSEMINATION: Patients will sign written informed consent. Ethical approval was obtained from ethics committee. The results will be disseminated in a peer-reviewed journal and presented at international congresses. The results will also be disseminated to patients. TRIAL REGISTRATION NUMBER: NCT02944929.


Assuntos
Toxinas Botulínicas/uso terapêutico , Paraparesia Espástica/reabilitação , Modalidades de Fisioterapia , Autocuidado/métodos , Reabilitação do Acidente Vascular Cerebral/métodos , Acidente Vascular Cerebral/complicações , Adolescente , Adulto , Idoso , Toxinas Botulínicas/administração & dosagem , Protocolos Clínicos , Terapia Combinada , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Paraparesia Espástica/etiologia , Paraparesia Espástica/terapia , Adulto Jovem
15.
Muscle Nerve ; 57(2): 245-254, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28590525

RESUMO

INTRODUCTION: The efficacy of single injections of abobotulinumtoxinA (Dysport) is established in adults with upper limb spasticity. In this study we assessed the effects of repeated injections of abobotulinumtoxinA over 1 year. METHODS: Patients (n = 258, safety population) received 500 U, 1,000 U, or 1,500 U (1,500-U dose included 500-U shoulder injections) for up to 4 or 5 treatment cycles. Assessments included treatment-emergent adverse events (TEAEs), muscle tone, passive and active range of motion (XV1, XA ), angle of catch (XV3 ), Disability Assessment Scale (DAS) score, Modified Frenchay Scale (MFS) score, and Physician Global Assessment (PGA) score. RESULTS: The incidence of TEAEs decreased across cycles. Muscle tone reduction and XV1 remained stable across cycles, whereas XV3 and XA continued to improve at the finger, wrist, and elbow flexors. DAS and PGA improved across cycles. MFS improved best with 1,500 U. DISCUSSION: A favorable safety profile and continuous improvements in active movements and perceived and active function were associated with repeated abobotulinumtoxinA injections in upper limb muscles. Muscle Nerve 57: 245-254, 2018.


Assuntos
Toxinas Botulínicas Tipo A/uso terapêutico , Espasticidade Muscular/tratamento farmacológico , Fármacos Neuromusculares/uso terapêutico , Extremidade Superior/fisiopatologia , Adulto , Idoso , Toxinas Botulínicas Tipo A/administração & dosagem , Toxinas Botulínicas Tipo A/efeitos adversos , Avaliação da Deficiência , Método Duplo-Cego , Cotovelo/fisiopatologia , Feminino , Dedos/fisiopatologia , Humanos , Injeções Intramusculares , Masculino , Pessoa de Meia-Idade , Espasticidade Muscular/fisiopatologia , Tono Muscular/efeitos dos fármacos , Fármacos Neuromusculares/administração & dosagem , Fármacos Neuromusculares/efeitos adversos , Amplitude de Movimento Articular/efeitos dos fármacos , Resultado do Tratamento , Punho/fisiopatologia
16.
Disabil Rehabil ; 39(13): 1262-1270, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-27342814

RESUMO

PURPOSE: A qualitative work is conducted to enable later the construction of a health-related quality of life (HRQL) questionnaire for patients with slowly-progressive neuromuscular disease (NMD) such as myopathies and muscular dystrophies. METHODS: The formation of focus groups is an efficient method to perform an in-depth exploration of the aspects of HRQL potentially impaired by NMD. Patients were recruited in France by 4 NMD reference centers. To ensure adequate representativeness in terms of severity, three types of focus groups were formed: (1) Patients able to walk (WP). (2) Patients using a wheelchair (WCP). (3) Patients using a wheelchair and requiring continuous mechanical ventilation (WCMVP). All verbal interactions among group participants were recorded. A qualitative analysis of the verbatim was performed using the framework of the International Classification of Functioning, Disability and Health model (ICF). RESULTS: A total of 41 patients distributed across five focus groups were interviewed. The verbatim provided 2424 ICF categories. The percentages of mentions of the different ICF categories were calculated and graphically displayed. CONCLUSION: The results enabled to identify and quantify the aspects of life that are altered by NMD according to patients. This qualitative work was the first phase of a more ambitious project to develop a new NMD-specific HRQL questionnaire. Implication of rehabilitation Patients with NMD have more to say about the quality of their environment, their social relationships and their psychological state than about their physical symptoms. This observation should be compared to clinician perceptions which often focus mainly on the physical symptoms, overlooking those elements that they cannot assess directly. Many patients reported relationship issues with various people from their surrounding (e.g., health professionals, acquaintances, colleagues, and strangers). In particular, it is essential that health professionals are careful not to make adult patients with NMD feel infantilized. This issue can be addressed by making all relevant medical information available and asking for the patient's opinion on any important change in their medical care.


Assuntos
Pessoas com Deficiência/reabilitação , Doenças Neuromusculares/reabilitação , Medidas de Resultados Relatados pelo Paciente , Qualidade de Vida , Adulto , Progressão da Doença , Feminino , Grupos Focais , França , Humanos , Classificação Internacional de Funcionalidade, Incapacidade e Saúde , Masculino , Pessoa de Meia-Idade , Relações Médico-Paciente , Pesquisa Qualitativa , Respiração Artificial , Inquéritos e Questionários , Cadeiras de Rodas
17.
J Neuromuscul Dis ; 3(2): 227-245, 2016 05 27.
Artigo em Inglês | MEDLINE | ID: mdl-27854212

RESUMO

BACKGROUND: Dystrophinopathies are mostly caused by copy number variations, especially deletions, in the dystrophin gene (DMD). Despite the large size of the gene, deletions do not occur randomly but mainly in two hot spots, the main one involving exons 45 to 55. The underlying mechanisms are complex and implicate two main mechanisms: Non-homologous end joining (NHEJ) and micro-homology mediated replication-dependent recombination (MMRDR). OBJECTIVE: Our goals were to assess the distribution of intronic breakpoints (BPs) in the genomic sequence of the main hot spot of deletions within DMD gene and to search for specific sequences at or near to BPs that might promote BP occurrence or be associated with DNA break repair. METHODS: Using comparative genomic hybridization microarray, 57 deletions within the intron 44 to 55 region were mapped. Moreover, 21 junction fragments were sequenced to search for specific sequences. RESULTS: Non-randomly distributed BPs were found in introns 44, 47, 48, 49 and 53 and 50% of BPs clustered within genomic regions of less than 700bp. Repeated elements (REs), known to promote gene rearrangement via several mechanisms, were present in the vicinity of 90% of clustered BPs and less frequently (72%) close to scattered BPs, illustrating the important role of such elements in the occurrence of DMD deletions. Palindromic and TTTAAA sequences, which also promote DNA instability, were identified at fragment junctions in 20% and 5% of cases, respectively. Micro-homologies (76%) and insertions or deletions of small sequences were frequently found at BP junctions. CONCLUSIONS: Our results illustrate, in a large series of patients, the important role of RE and other genomic features in DNA breaks, and the involvement of different mechanisms in DMD gene deletions: Mainly replication error repair mechanisms, but also NHEJ and potentially aberrant firing of replication origins. A combination of these mechanisms may also be possible.


Assuntos
Variações do Número de Cópias de DNA/genética , Reparo do DNA por Junção de Extremidades , Distrofina/genética , Distrofia Muscular de Duchenne/genética , Reparo de DNA por Recombinação , Hibridização Genômica Comparativa , Quebras de DNA de Cadeia Dupla , Reparo do DNA , Replicação do DNA , Humanos , Íntrons , Masculino , Deleção de Sequência
18.
Acta Bioeng Biomech ; 18(3): 123-129, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27840446

RESUMO

PURPOSE: After a vestibular deficit some patients may be affected by chronical postural instability. The aim of this study was to identify the emotional and cognitive factors of these symptomatic patients. In particular, the double cognitive task and the anxiety disorder were identified by our patients. Through a retrospective study, 14 patients (65.4 ± 18 years) participated in the experiment. METHOD: The experimentation consists in the study of the standing position of our patients through the aggregate of the trajectories of the center of pressure (COP) using a force plate device. With the aim of isolating the emotional and cognitive influence, this experimentation was defined in two conditions. In the first one, the patients were asked to maintain their balance without additional tasks. In the second one, the patients were submitted to an additional cognitive arithmetic task. The stabilogram surface, length (the forward and backward displacement distance during deviations in COP), lateral and the antero-posterior deviations were assessed. RESULTS: Our results showed an increase of postural instability of patients affected by chronical vestibular disorders when submitted to the double task. The patients submitted to the cognitive task present a larger surface of activity in comparison with the free-task one (Wilcoxon test p-value equals p = 0.0453). In addition, their displacements inside this area are more important (p = 0.0338). The COP of all our patients deviated forward in the presence of the double task. CONCLUSION: The increase in instability during the double cognitive task could be explained by an additional stress caused by the desire to make a success of the cognitive task.


Assuntos
Análise e Desempenho de Tarefas , Doenças Vestibulares/fisiopatologia , Idoso , Doença Crônica , Cognição/fisiologia , Feminino , Humanos , Masculino , Equilíbrio Postural/fisiologia , Pressão
19.
Qual Life Res ; 24(11): 2615-23, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26141500

RESUMO

PURPOSE: To build a questionnaire to assess health-related quality of life (HRQL) in patients suffering from slowly progressive neuromuscular disease (NMD) using item response theory (IRT). METHODS: A pool of 64 items and a validated questionnaire (WHOQOL-BREF) were administered to 159 patients recruited in eight NMD referral centers. Exploratory statistical analysis included methods derived from both IRT and classical test theory. RESULTS: We constructed a questionnaire named QoL-NMD which is composed of two general items and 24 items classified in three domains: (1) "Impact of Physical Symptoms," (2) "Self-perception" and (3) "Activities and Social Participation." Each domain has good psychometric properties (Cronbach's alpha > 0.77, test-retest ICC > 0.81, Loevinger's H > 0.41) and meets IRT assumptions. Comparison with the WHOQOL-BREF enabled assessing similarities and discrepancies with a generic questionnaire. CONCLUSION: This study enabled the development of a new HRQL questionnaire specifically designed for slowly progressive NMD patients. The QoL-NMD is short enough to be used in clinical practice (26 items). The next steps will be to validate QoL-NMD by re-assessing psychometrics in an independent sample of patients and calibrate the IRT scoring system.


Assuntos
Progressão da Doença , Nível de Saúde , Doenças Neuromusculares/psicologia , Qualidade de Vida/psicologia , Inquéritos e Questionários , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Psicometria , Autoimagem
20.
Int J Geriatr Psychiatry ; 24(7): 709-15, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19145574

RESUMO

OBJECTIVE: To identify factors predictive of rapid cognitive decline (RCD) among elderly subjects aged 75 or over suffering from dementia. METHODS: The analysis concerned 250 patients drawn from the 'Sujet Agé Fragile--Evaluation et Suivi' (SAFES) cohort, presenting a dementia syndrome at inclusion and followed-up for at least 1 year. RCD was defined as the loss of at least 3 points on the Mini-Mental State Examination (MMSE) in the follow-up period of 12 months. All patients underwent a standardised geriatric evaluation. Logistic regression was used to identify factors predictive of RCD. RESULTS: In the study sample, 84 patients (33.6%) presented RCD. The factors identified in multivariate analysis as predictive of RCD were: high level of education (OR = 7.8, 95% CI = [1.9-31.2], p = 0.004), risk of depression (OR = 1.8, 95% CI = [1.02-3.18], p = 0.048, and the initial MMSE score (OR = 1.1, 95% CI = [1.0-1.2], p = 0.002). Among subjects with a main caregiver (n = 177), the predictive factors were malnutrition or risk thereof (OR = 4.2, 95% CI = [1.3-14.1], p = 0.02), risk of a fall (OR = 2.6, 95% CI = [1.1-6.1], p = 0.03, caregiver burden (OR = 2.6, 95% CI = [1.1-6.4], p = 0.04) and initial MMSE score (OR = 1.1, 95% CI = [1.0-1.3], p = 0.004). CONCLUSIONS: As soon as dementia is diagnosed in elderly subjects, information should be collected about the subject's socioeconomic status, nutritional status, risk of falling, mood state, and caregiver burden. This would enable the provision of appropriate therapeutic care, and make it possible to adapt follow-up in case of a risk of accelerated cognitive deterioration.


Assuntos
Atividades Cotidianas/psicologia , Demência/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Demência/epidemiologia , Demência/psicologia , Progressão da Doença , Feminino , França/epidemiologia , Avaliação Geriátrica , Indicadores Básicos de Saúde , Humanos , Masculino , Testes Neuropsicológicos , Valor Preditivo dos Testes , Índice de Gravidade de Doença , Fatores de Tempo
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