Dyspnea assessment in myotonic dystrophy type 1.

In myotonic mystrophy type 1 (DM1), combining respiratory symptom screening and respiratory function testing, is crucial to identify the appropriate time for ventilatory support initiation. Dyspnea has been little investigated in DM1. To provide a multidimensional description of dyspnea, questionnaires assessing dyspnea were administered to 34 consecutive adult patients with DM1 (median (25th-75th centile) age of 36 (28-49), Vital Capacity (VC) of 74 (64-87)% of predicted value). Dyspnea scores were low whatever the questionnaire used: Multidimensional Dyspnea Profile score of 2(0-4.7)/50 for dyspnea sensory descriptor and of 0 (0-4.7)/60 for the emotional descriptor, Visual Analogue Scale score of 0 (0-0)/10 in sitting and supine position and Borg score after six-minute walk test (6MWT) of 2.2 (1.8-4.2)/10. Eleven patients (32%) reported disabling dyspnea in daily living (modified Medical Research Council (mMRC) score ≥ 2). In comparison with patients with mMRC score < 2, patients with mMRC score ≥ 2 had a more severe motor handicap (Muscular Impairment Rating score of 4.0 (4.0-4.0) vs 3.0 (2.0-3.5), p<0.01), a lower 6MWT distance (373 (260-424) vs 436 (346-499)m, p = 0.03) and a lower VC (64 (48-74)% vs 75 (69-89)%, p = 0.02). These data suggest that the mMRC scale might be an easy-to-use and useful tool to assess dyspnea in daily living in DM1 patients. However, the interest of integrating the mMRC dyspnea scale in clinical practice to guide therapeutic management of DM1 patients remains to be assessed in further studies.

Acute and Cumulative Effects With Whole-Body Vibration Exercises Using 2 Biomechanical Conditions on the Flexibility and Rating of Perceived Exertion in Individuals With Metabolic Syndrome: A Randomized Clinical Trial Pilot Study.

This study evaluated the effects of 6 weeks of whole-body vibration (WBV) exercise on flexibility and the rating of perceived exertion (RPE) in metabolic syndrome (MetS) individuals using 2 biomechanical conditions (fixed frequency [FF] and variable frequency [VF]). Nineteen MetS individuals were randomly allocated in FF-WBV (n = 9, 7 women and 2 men) and VF-WBV (n = 10, 8 women and 2 men) groups. Anterior trunk flexion (ATF) and RPE were determined before and after each session. The acute cumulative exposure effects were analyzed. The FF-WBV group was exposed to 5 Hz on a side alternating vibrating platform (SAVP), exposed to 10 and 50 seconds with the SAVP turned off. The VF-WBV group individuals were intermittently exposed (1 minute WBV exercise/1 minute rest) to 5 to 16 Hz, increased by 1 Hz per session and the peak-to-peak displacement (PPD) were 2.5, 5.0, and 7.5 mm. Regarding to ATF, significant improvements (P < .05) were observed in the in the acute (VF group) and cumulative intervention (FF and VF-WBV groups). The RPE significantly (P < .05) improved only in VF-WBV (cumulative intervention). In conclusion, WBV exercise improved the flexibility and decreased the RPE in MetS individuals. These findings suggest that WBV exercise can be incorporated into physical activities for MetS individuals.

Should whole body cryotherapy sessions be differentiated between women and men? A preliminary study on the role of the body thermal resistance.

The aim of this study was to investigate how body thermal resistance between sexes evolves over time in the recovery period after a WBC session and to show how this parameter should be considered as a key parameter in WBC protocols. Eighteen healthy participants volunteered for the study (10 males and 8 females). Temperature (core and skin) were recorded pre- and post (immediately and every 5 min until 35 min post) exposure to a single bout of WBC (30 s at -60 °C, 150 s at -110 °C). From both core and skin temperatures a bio-heat transfer model was applied which led to the analytical formulation of the body thermal resistance. An unsteady behavior presenting a similar time-evolution trend in the body insulative response is shown for both females and males, possibly due to the vasodilatation process following an intense peripheral vasoconstriction during the extreme cold. Females present a 37% higher inner thermal resistance than males when reaching an asymptotical thermal state at rest due to a higher concentration of body fat percentage. Adiposity of tissues inherent in fat mass percentage appears to be a key parameter in the body thermal resistance to be taken into account in the definition of appropriate protocols for males and females. The conclusions of this preliminary study suggest that in order to achieve the same skin effects on temperature and consequently to cool efficiency tissues in the same way, the duration of cryotherapy protocols should be shorter when considering female compared to male.

Effect of whole body cryotherapy interventions on health-related quality of life in fibromyalgia patients: A randomized controlled trial.

INTRODUCTION: Although fibromyalgia syndrome (SFM) affects 2-4 percent of adults, research has not identified a preferred therapeutic option for patients worldwide yet. Based on recent findings, it can be expected that whole body cryotherapy can improve health-reported quality of life by alleviating the symptoms of musculoskeletal pain and fatigue. OBJECTIVE: Our aim was to determine whether whole body cryotherapy only can result in improved perceived health and quality of life in fibromyalgia patients. METHODS: 24 patients with fibromyalgia diagnosis were randomized into 2 groups (n=11 in the whole body cryotherapy group, n=13 in the control group). In the whole body cryotherapy group, 10 sessions of whole body cryotherapy were performed (in addition to usual care) in a standard cryotherapy room over a duration of 8days. Subjects in the control group did not change anything in their everyday activities. Quality of life was assessed just before and one month after treatment. RESULTS: Compared with the control group, patients in the whole body cryotherapy group reported significantly improved for health-reported quality of life. These effects lasted for at least one month following intervention. CONCLUSION: Based on these findings, whole body cryotherapy can be recommended as an effective clinically adjuvant approach in the improvement of health-related quality of life in fibromyalgia patients.

What are the appropriate methods for analyzing patient-reported outcomes in randomized trials when data are missing?

Subjective health measurements using Patient Reported Outcomes (PRO) are increasingly used in randomized trials, particularly for patient groups comparisons. Two main types of analytical strategies can be used for such data: Classical Test Theory (CTT) and Item Response Theory models (IRT). These two strategies display very similar characteristics when data are complete, but in the common case when data are missing, whether IRT or CTT would be the most appropriate remains unknown and was investigated using simulations. We simulated PRO data such as quality of life data. Missing responses to items were simulated as being completely random, depending on an observable covariate or on an unobserved latent trait. The considered CTT-based methods allowed comparing scores using complete-case analysis, personal mean imputations or multiple-imputations based on a two-way procedure. The IRT-based method was the Wald test on a Rasch model including a group covariate. The IRT-based method and the multiple-imputations-based method for CTT displayed the highest observed power and were the only unbiased method whatever the kind of missing data. Online software and Stata® modules compatibles with the innate mi impute suite are provided for performing such analyses. Traditional procedures (listwise deletion and personal mean imputations) should be avoided, due to inevitable problems of biases and lack of power.

[Which treatments for the hyperventilation syndrome in adults?] / Quels traitements proposer dans le syndrome d'hyperventilation chez l'adulte ?

The hyperventilation syndrome is a complex entity whose management is poorly codified. We report a synthesis about the management of adult patients diagnosed with hyperventilation syndrome. A systematic literature review has identified fifteen articles dealing, among them three studies about drug treatment and the others about non-pharmacological approaches. Among the last ones, a re-educational approach based on abdominal ventilation and regulation of the ventilatory rate seems and an educative approach seems to be the most effective. Methodological biases did not permit a conclusion on the efficacy of these treatments. Practically, teaching abdominal ventilation and respiratory rate regulation, associated with a personalized therapeutic education, seems to be a pertinent management approach. Other clinical studies should explore this issue.

Theoretical modeling of time-dependent skin temperature and heat losses during whole-body cryotherapy: A pilot study.

This article establishes the basics of a theoretical model for the constitutive law that describes the skin temperature and thermolysis heat losses undergone by a subject during a session of whole-body cryotherapy (WBC). This study focuses on the few minutes during which the human body is subjected to a thermal shock. The relationship between skin temperature and thermolysis heat losses during this period is still unknown and have not yet been studied in the context of the whole human body. The analytical approach here is based on the hypothesis that the skin thermal shock during a WBC session can be thermally modelled by the sum of both radiative and free convective heat transfer functions. The validation of this scientific approach and the derivation of temporal evolution thermal laws, both on skin temperature and dissipated thermal power during the thermal shock open many avenues of large scale studies with the aim of proposing individualized cryotherapy protocols as well as protocols intended for target populations. Furthermore, this study shows quantitatively the substantial imbalance between human metabolism and thermolysis during WBC, the explanation of which remains an open question.

Effort training in Parkinson's disease: a systematic review.

OBJECTIVE: Physical therapy strategies have recently proved their efficacy in the field of Parkinson's disease management. The purpose of this paper was to access the efficacy and the limits of aerobic training and strength training included in physical rehabilitation programs and to define practical modalities. METHOD: A comprehensive search on Pubmed and Cochrane databases was made. RESULTS: Five literature revues and thirty one randomised trials have been selected. Exercise training improves aerobic capacities, muscle strength, walking, posture and balance parameters. Rehabilitation programs should begin as soon as possible, last several weeks and be repeated. They should include aerobic training on bicycle or treadmill and a muscle strengthening program. CONCLUSION: There is evidence that aerobic and strength training improve physical habilities of patients suffering from Parkinson's Disease. Rehabilitation programs should be discussed with the patient, taking in account his difficulties and his physical capacities. Two questions are debatable: exercise intensity and phase ON / phase OFF timing.

Aerobic capacities and exercise tolerance in neuromuscular diseases: a descriptive study.

INTRODUCTION: Up until now, there has been little description of the test exercises carried out in patients with neuromuscular diseases. However, prescription of physical therapy by exercise requires rigorous individualized assessment of the patient's physical endurance parameters. OBJECTIVE: To describe exercise tolerance and external limitation factors in a sample group of adult patients suffering from neuromuscular diseases. MATERIALS AND METHODS: A descriptive retrospective study of exercise tests realized at the Reims university hospital for patients divided into three groups according to their pathologies: CMT hereditary neuropathies, muscular dystrophies, metabolic myopathies. RESULTS: Forty-four (44) tests were analyzed. Cessation was occasioned on 63.6% of the cases by muscular symptomatology, with no possibility of maintaining the cycling frequency in 29.5% of the overall population. Insufficient lung volume recruitment was involved in 61.4% of the patients, final oxygen pulse (VO2/heart rate) was 80% lower than the theoretical pulse in 50% of the patients, and there existed an early first ventilatory threshold in 54.5% of the cases. Peripheral deconditioning was highly severe in 18% of the population and significantly greater in the subjects suffering from dystrophies (VT1 at 31% of the maximum theoretical O2, P<0.001). DISCUSSION: The main limitation factor in exercise tests is peripheral. Ventilatory and cardiovascular limitations can nonetheless be added on; while they are absent when the patient is at rest, they are unmasked in effort situations. Exercise tests could be of great interest in screening and managing the relevant pathologies. Multicenter studies on homogeneous populations could facilitate definition of the procedures specific to exercise tests for patients suffuring from neuromuscular diseases.

Executive functions of children with developmental dyspraxia: assessment combining neuropsychological and ecological tests.

OBJECTIVE: To assess executive function in children with developmental dyspraxia. INCLUSION CRITERIA: children aged 8 years to 12 years 5 months at the time of the study, diagnosed with developmental dyspraxia between January, 2008 and August, 2009 by a multidisciplinary team in one single center. ASSESSMENT TOOLS: (1) Paper-and-pencil neuropsychological and ecological tests to assess flexibility, planning, inhibition and prospective memory; (2) two questionnaires answered by parents; (3) the 'Children's Cooking Task' (CCT), an ecological task performed in a real environment (Chevignard et al., 2009 [15]). In this last test, children were compared to matched controls. Non-parametric statistical tests were used. RESULTS: Thirteen patients participated in the study (11 boys-2 girls; mean age 10.3 years [SD=1.3]). Neuropsychological tests highlighted planning and inhibition disorders, but no impaired flexibility. For more than half of the children, the questionnaires indicated impaired executive functions in daily life tasks. Finally, patients showed a significantly increased rate of errors during the CCT, compared with the control group (P<0.001). CONCLUSION: Overall results suggest that some children diagnosed with developmental dyspraxia also exhibit executive function disorders. Ecological tests seem more sensitive for identifying executive function disorders than conventional tests.

Predictive factors of long-term mortality of persons with tetraplegic spinal cord injury: an 11-year French prospective study.

STUDY DESIGN: Longitudinal study with mortality follow-up. OBJECTIVE: Identify predictive factors for long-term mortality following tetraplegic spinal cord injury (TSCI). SETTING: The Tetrafigap survey is a multi-centre epidemiological survey on the long-term outcome of persons with TSCI, initiated in France in 1995 with the participation of 35 rehabilitation centres. METHODS: The mortality follow-up involves 1241 persons with TSCI who were admitted to one of the study rehabilitation units at the initial phase and who completed the initial self-administered questionnaire. There were 226 observed deaths (18.2%) during an 11-year period. Logistic regression methods, with estimates of odds ratios (ORs), incorporating clinical, functional and social participation data were used to determine the factors related to mortality. This was followed by multivariate analysis to determine the best predictive factors for long-term mortality. RESULTS: Risk of death increases significantly with age but not with the time elapsed since the accident. The risk of death is higher in men. Interestingly, clinical variables are not the best predictors of long-term mortality. Instead, the significant effect of poor social participation (being single, infrequent contact with friends) and functional limitations (full assistance required with dressing or eating) persists after adjustment for other variables. CONCLUSION: Once the medical situation becomes more stable, factors related to the long-term mortality of persons with TSCI are not exactly identical to those observed in the short acute-phase and during the first year after the accident. Social participation has a significant effect on mortality.

Post-polio syndrome: Pathophysiological hypotheses, diagnosis criteria, drug therapy.

Post-polio syndrome (PPS) refers to a clinical disorder affecting polio survivors with sequelae years after the initial polio attack. These patients report new musculoskeletal symptoms, loss of muscular strength or endurance. PPS patients are tired, in pain and experience new and unusual muscular deficits, on healthy muscles as well as deficient muscles initially affected by the Poliovirus. Once a clinical diagnosis is established, the therapeutic options can be discussed. Some pathophysiological mechanisms have been validated by research studies on PPS (inflammatory process in cerebrospinal fluid [CSF] and cytokines of the immune system). Several studies have been conducted to validate medications (pyridostigmine, immunoglobulin, coenzyme Q10) or physical exercises protocols. This article focuses on the relevance and efficacy that can be expected from these therapeutics. Very few studies reported some improvements. Medications combined to individual and supervised exercise training programs are promising therapeutic strategies for PPS patients care management.

Post-polio syndrome and rehabilitation.

Post-polio syndrome (PPS) is the commonly affected term to describe the symptoms that may develop many years after acute paralytic poliomyelitis. The etiology of PPS is still unclear. An overuse of enlarged motor units is suspected causing denervation again due to distal degeneration of axons. Metabolic and functional changes has been described in muscle fibers of partially denervated muscles. Nevertheless, submaximal aerobic training and low intensity muscular strengthening have shown positive effects on muscular strength and cardiorespiratory system in patients affected by PPS. Aquatic therapy has a positive impact on pain and muscle function. In patients with severe fatigue, it is recommended to adapt the daily exercise routine to their specific case.

Vestibular rehabilitation therapy.

Dizziness and balance disorders are frequent complaints in the general population. Vestibular rehabilitation exercises have been shown to be efficient in controlled studies, provided that a precise, individual diagnosis has previously been made. Depending on the pathology, a subject with a peripheral vestibular pathology can benefit from manoeuvres aiming at dislodging or repositioning otoliths, from non-specific muscles strengthening techniques, from techniques for vestibular-ocular or vestibular-cervical stabilisation of gaze, or from physical exercises aimed at strengthening proprioceptive afferents, inhibiting a sensory predominance, or improving spatial orientation and navigation. These analytical exercises should then be implemented in an ecological context in order to favour transfer to daily-living activities. These physical exercises can enable the development of compensation strategies following vestibular damage (habituation, adaptation and substitution).