Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study

Charcot-Marie-Tooth (CMT) patients present mainly lower limbs disability, with slowly progressive distal muscle weakness and atrophy, but hands impairment is a relevant problem affecting the quality of life (QoL). The evaluation of the upper limb is of primary importance. Often these patients present subclinical disorders or report difficulties in manipulating objects, with little evidence in the most used outcome measures. We aim to investigate the impact of hand impairment in the perceived QoL of CMT persons and secondly whether the Disability of Arm, Shoulder and Hand (DASH) scale can be useful in assessing upper limb abilities in CMT. We recruited 23 patients with confirmed genetic diagnosis of CMT. We performed a clinical evaluation with Sollerman Hand Function Test (SHFT), Thumb Opposition Test (TOT) and CMT examination score (CMTES). We completed the clinical assessment with DASH scale and the Short form 36 (SF36) questionnaire for a subjective evaluation of upper limb disability and quality of life. All patients also underwent an instrumental evaluation with a hand-held dynamometer measuring hand grip and tripod pinch and a sensor-engineered glove test (SEGT) to evaluate finger opposition movements in a quantitative spatial-temporal way. As expected, we found significant differences between CMT and control group performances in both clinical and instrumental assessment. Concerning QoL, we found that total score of SF36 and the SF36 Physical Composite Score (PCS) correlate with all clinical and instrumental Outcome Measures (OMs), particularly with Tripod pinch strength and TOT, which are considered major determinants of manual dexterity in CMT. DASH scale correlates with most clinical and instrumental OMs. Not surprisingly, we also found a correlation with DASH work, because CMT affects young patients engaged in work activities. However, we found a low correlation with the TOT and the dynamometer suggesting that DASH may not be the best scale for remote monitoring of upper limb disorders in CMT patients. Nevertheless, the results of our study confirm the usefulness of SF36 in recognizing the impact of upper limb disability in these subjects suggesting its use even in the remote monitoring of physical functioning

Biological degradation of glyphosate

La necesidad de producir más alimentos ha llevado al aumento del uso de pesticidas, entre ellos glifosato, el cual es ampliamente empleado en la producción de soja transgénica. Esto ha implicado que crezcan los casos de intoxicaciones y contaminación de recursos naturales. Por tal motivo los entes gubernamentales han formulado instrucciones de manipulación y de descarte de los envases comerciales. El objetivo del presente trabajo fue evaluar la capacidad de Candida tropicalis LMFIQ 703 para disminuir la concentración de glifosato en el tercer enjuague de bidones y así reducir el riesgo de impacto ambiental adverso que producen los residuos de pesticida en los envases vacíos almacenados por largos periodos de tiempo. Se sembraron suspensiones de levadura sin adaptación, en soluciones de Credit® Amonio (Ingrediente activo: sal amónica de la N-fosfonometil glicina) con concentración conocida (similar a la del tercer enjuague). Se incubó a 28°C durante 28 días y se realizó el recuento microbiológico de colonias de levadura cada 7 días. La determinación de la concentración de glifosato se hizo por fluorimetría con calibración multivariada y HPLC. Las levaduras se mantuvieron viables durante todo el experimento, con una disminución inicial por adaptación y una concentración final similar a la inicial. Los resultados de la cuantificación de glifosato a través de fluorescencia y calibración multivariada, aprovechando la ventaja de segundo orden del algoritmo MCR-ALS resultaron comparables con los obtenidos por el método de referencia (HPLC). Se puede concluir que la biorremediación propuesta fue eficiente ya que la concentración de glifosato disminuyó un 39%.The need to produce more food has led to an increased usage of pesticides. One of them is glyphosate, which is widely used in soybean production. This has implied the growing of cases of intoxication and pollution of natural resource. For this reason, government agencies have formulated instructions for handling and disposal of commercial packaging. The aim of the present work was to evaluate the ability of the yeast Candida tropicalis LMFIQ 703 to decrease the concentration of glyphosate present in the third rinse of the containers, so as to diminish the risk of adverse ambient impact produced by the pesticide residues in empty containers stored for long periods of time. Yeast suspensions were seeded, without adaptation, in Credit Ammonium solutions (Active ingredient: ammonium salt of N-phosphonomethyl glycine) of known concentration (similar to the obtained in the third rinse). The incubation was done at 28 °C for 28 days. Glyphosate was quantified and the number of colonies was determined at different times. The concentration of the pesticide was done by a fluorimetric method with multivariate calibration as well as by HPLC. Yeasts remained viable throughout the experiment, with an initial decrease because of adaptation and a final concentration similar to the initial. The quantification results of glyphosate by the fluorimetric technique with the aid of the second order advantage achieved by MCR-ALS were comparable with those acquired by the reference method (HPLC). It can be concluded that the proposed bioremediation is efficient since the concentration of glyphosate was decreased by 39%.Fil: Sobrero, María Silvina. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas; ArgentinaFil: Marsili, Nilda Raquel. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas; ArgentinaFil: Schenone, Agustina Violeta. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe. Instituto de Desarrollo Tecnológico para la Industria Química. Universidad Nacional del Litoral. Instituto de Desarrollo Tecnológico para la Industria Química; ArgentinaFil: Manzo, Ricardo Martín. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe. Instituto de Desarrollo Tecnológico para la Industria Química. Universidad Nacional del Litoral. Instituto de Desarrollo Tecnológico para la Industria Química; ArgentinaFil: Frisón, Laura Noemí. Universidad Nacional del Litoral. Facultad de Ingeniería Química. Departamento de Ingeniería en Alimento. Area de Biotecnología; Argentin

Hand Rehabilitation Treatment for Charcot-Marie-Tooth Disease: An Open Label Pilot Study

Charcot-Marie-Tooth neuropathy affects mainly and early the lower limbs, but hands deformities are a relevant problem, which involves the quality of life of the patients. Unfortunately, there are few studies about the evaluation of the upper limbs and very rare works about the rehabilitation. A treatment study at the moment is missing and it is important to search rehabilitation exercises to improve the dexterity and the quality of life of the patients. METHODS: We recruited 9 patients with clinical and genetic diagnosis of CMT and we proposed a rehabilitation protocol which includes muscle recruitment, stretching and proprioceptive exercises for the hand with the duration of 4 weeks (two sessions for week). We evaluated the patients before and one week after the treatment with Thumb Opposition Test, Sollerman Hand Function Scale, dynamometry (tripod pinch and hand grip). RESULTS: The rehabilitation protocol has been well tolerated and there were not dropouts. We did not observe any worsening in every scale we used. Every parameter tested showed an improvement especially in the right/dominant hand. CONCLUSION: This study demonstrates that this three phases treatment is well tolerated by patients, it is not detrimental for the hands status and perfectly reproducible by professionals. Moreover, this could be the basis for future randomized single blind projects

Improvement of Motor Task Performance: Effects of Verbal Encouragement and Music—Key Results from a Randomized Crossover Study with Electromyographic Data

External motivational stimuli have been shown to improve athletic performance. However, the neurophysiological mechanisms underlying this improvement remain poorly understood. This randomized crossover study investigated the effects of music and verbal encouragement on measures of muscle excitation and myoelectric manifestations of fatigue in the biceps brachii and brachioradialis muscles during an endurance task. Fifteen untrained (mean age 29.57 +/- 2.77 years) and 13 trained individuals (mean age 32.92 +/- 2.90 years) were included. The endurance task, performed to exhaustion, consisted of keeping the dominant arm flexed to 90 degrees while holding a dumbbell loaded to 80% of 1RM with a supine grip in three randomized conditions: standard, with self-selected music, and with verbal encouragement. The untrained subjects showed an increase in task duration of 15.26% (p < 0.003) with music and 15.85% (p < 0.002) with verbal encouragement compared to the condition without external stimuli. There were no significant differences in the myoelectric manifestations of fatigue between the different conditions. Regarding the muscle excitation metrics, although the mean amplitude, peak value, and area under the curve remained unchanged across conditions, a significant reduction in the trend coefficient, indicating motor unit recruitment over time, was observed with both music (biceps brachii: -10.39%, p < 0.001; brachioradialis: -9.40%, p < 0.001) and verbal encouragement (biceps brachii: -7.61%, p < 0.001; brachioradialis: -6.51%, p < 0.001) compared to the standard condition. For the trained participants, no significant differences were observed between conditions in terms of task duration and outcome measures related to muscle excitation and myoelectric manifestations of fatigue, suggesting the possible presence of a ceiling effect on motivation. These results highlight the important role of external motivational stimuli, such as music and verbal encouragement, in improving task performance in untrained subjects, probably through more effective and efficient recruitment of motor units

Rivaroxaban for the treatment of noncirrhotic splanchnic vein thrombosis: an interventional prospective cohort study.

Heparins and vitamin K antagonists are the mainstay of treatment of splanchnic vein thrombosis (SVT). Rivaroxaban is a potential alternative, but data to support its use are limited. We aimed to evaluate the safety and efficacy of rivaroxaban for the treatment of acute SVT. In an international, single-arm clinical trial, adult patients with a first episode of noncirrhotic, symptomatic, objectively diagnosed SVT received rivaroxaban 15 mg twice daily for 3 weeks, followed by 20 mg daily for an intended duration of 3 months. Patients with Budd-Chiari syndrome and those receiving full-dose anticoagulation for >7 days prior to enrollment were excluded. Primary outcome was major bleeding; secondary outcomes included death, recurrent SVT, and complete vein recanalization within 3 months. Patients were followed for a total of 6 months. A total of 103 patients were enrolled; 100 were eligible for the analysis. Mean age was 54.4 years; 64% were men. SVT risk factors included abdominal inflammation/infection (28%), solid cancer (9%), myeloproliferative neoplasms (9%), and hormonal therapy (9%); 43% of cases were unprovoked. JAK2 V617F mutation was detected in 26% of 50 tested patients. At 3 months, 2 patients (2.1%; 95% confidence interval, 0.6-7.2) had major bleeding events (both gastrointestinal). One (1.0%) patient died due to a non-SVT-related cause, 2 had recurrent SVT (2.1%). Complete recanalization was documented in 47.3% of patients. One additional major bleeding event and 1 recurrent SVT occurred at 6 months. Rivaroxaban appears as a potential alternative to standard anticoagulation for the treatment of SVT in non-cirrhotic patients. This trial was registered at www.clinicaltrials.gov as #NCT02627053 and at eudract.ema.europa.eu as #2014-005162-29-36

Psychological treatments and psychotherapies in the neurorehabilitation of pain. Evidences and recommendations from the italian consensus conference on pain in neurorehabilitation

BACKGROUND: It is increasingly recognized that treating pain is crucial for effective care within neurological rehabilitation in the setting of the neurological rehabilitation. The Italian Consensus Conference on Pain in Neurorehabilitation was constituted with the purpose identifying best practices for us in this context. Along with drug therapies and physical interventions, psychological treatments have been proven to be some of the most valuable tools that can be used within a multidisciplinary approach for fostering a reduction in pain intensity. However, there is a need to elucidate what forms of psychotherapy could be effectively matched with the specific pathologies that are typically addressed by neurorehabilitation teams. OBJECTIVES: To extensively assess the available evidence which supports the use of psychological therapies for pain reduction in neurological diseases. METHODS: A systematic review of the studies evaluating the effect of psychotherapies on pain intensity in neurological disorders was performed through an electronic search using PUBMED, EMBASE, and the Cochrane Database of Systematic Reviews. Based on the level of evidence of the included studies, recommendations were outlined separately for the different conditions. RESULTS: The literature search yielded 2352 results and the final database included 400 articles. The overall strength of the recommendations was medium/low. The different forms of psychological interventions, including Cognitive-Behavioral Therapy, cognitive or behavioral techniques, Mindfulness, hypnosis, Acceptance and Commitment Therapy (ACT), Brief Interpersonal Therapy, virtual reality interventions, various forms of biofeedback and mirror therapy were found to be effective for pain reduction in pathologies such as musculoskeletal pain, fibromyalgia, Complex Regional Pain Syndrome, Central Post-Stroke pain, Phantom Limb Pain, pain secondary to Spinal Cord Injury, multiple sclerosis and other debilitating syndromes, diabetic neuropathy, Medically Unexplained Symptoms, migraine and headache. CONCLUSIONS: Psychological interventions and psychotherapies are safe and effective treatments that can be used within an integrated approach for patients undergoing neurological rehabilitation for pain. The different interventions can be specifically selected depending on the disease being treated. A table of evidence and recommendations from the Italian Consensus Conference on Pain in Neurorehabilitation is also provided in the final part of the pape

RFC1 expansions are a common cause of idiopathic sensory neuropathy

After extensive evaluation, one-third of patients affected by polyneuropathy remain undiagnosed and are labelled as having chronic idiopathic axonal polyneuropathy, which refers to a sensory or sensory-motor, axonal, slowly progressive neuropathy of unknown origin. Since a sensory neuropathy/neuronopathy is identified in all patients with genetically confirmed RFC1 cerebellar ataxia, neuropathy, vestibular areflexia syndrome, we speculated that RFC1 expansions could underlie a fraction of idiopathic sensory neuropathies also diagnosed as chronic idiopathic axonal polyneuropathy. We retrospectively identified 225 patients diagnosed with chronic idiopathic axonal polyneuropathy (125 sensory neuropathy, 100 sensory-motor neuropathy) from our general neuropathy clinics in Italy and the UK. All patients underwent full neurological evaluation and a blood sample was collected for RFC1 testing. Biallelic RFC1 expansions were identified in 43 patients (34%) with sensory neuropathy and in none with sensory-motor neuropathy. Forty-two per cent of RFC1-positive patients had isolated sensory neuropathy or sensory neuropathy with chronic cough, while vestibular and/or cerebellar involvement, often subclinical, were identified at examination in 58%. Although the sensory ganglia are the primary pathological target of the disease, the sensory impairment was typically worse distally and symmetric, while gait and limb ataxia were absent in two-thirds of the cases. Sensory amplitudes were either globally absent (26%) or reduced in a length-dependent (30%) or non-length dependent pattern (44%). A quarter of RFC1-positive patients had previously received an alternative diagnosis, including Sj\uf6gren's syndrome, sensory chronic inflammatory demyelinating polyneuropathy and paraneoplastic neuropathy, while three cases had been treated with immune therapies

Guías Argentinas de Vasculitis

La arteritis de células gigantes (ACG) es una vasculitis sistémica que afecta a personas adultas; compromete vasos arteriales de mediano y gran calibre, con potenciales complicaciones de gravedad, como la ceguera, y es considerada una emergencia médica. El objetivo de estas guías fue desarrollar las primeras recomendaciones argentinas para su tratamiento, basadas en la revisión de la literatura mediante metodología GRADE. Un panel de expertos en vasculitis elaboró las preguntas en formato PICO (población, intervención, comparador y outcomes), y luego un panel de expertos en metodología efectuó la revisión de la bibliografía con la extracción de la evidencia para cada una de las preguntas. Se realizó un focus group de pacientes para conocer sus preferencias y experiencias. Finalmente, con la información recabada, el panel de expertos en vasculitis procedió a la votación de las recomendaciones que a continuación se presentan

Recomendaciones de la Sociedad Argentina de Reumatología en el manejo de la arteritis de células gigantes

La arteritis de células gigantes (ACG) es una vasculitis sistémica que afecta a personas adultas; compromete vasos arteriales de mediano y gran calibre, con potenciales complicaciones de gravedad, como la ceguera, y es considerada una emergencia médica. El objetivo de estas guías fue desarrollar las primeras recomendaciones argentinas para su tratamiento, basadas en la revisión de la literatura mediante metodología GRADE. Un panel de expertos en vasculitis elaboró las preguntas en formato PICO (población, intervención, comparador y outcomes), y luego un panel de expertos en metodología efectuó la revisión de la bibliografía con la extracción de la evidencia para cada una de las preguntas. Se realizó un focus group de pacientes para conocer sus preferencias y experiencias. Finalmente, con la información recabada, el panel de expertos en vasculitis procedió a la votación de las recomendaciones que a continuación se presentan

Recomendaciones de la Sociedad Argentina de Reumatología para el tratamiento de las vasculitis asociadas a ANCA

Las vasculitis asociadas a ANCA representan un grupo de enfermedades autoinmunes, multisistémicas, que afectan principalmente a los vasos de pequeño calibre, pudiendo comprometer el tracto respiratorio superior e inferior, el aparato otorrinolaringológico, riñón y piel, aunque eventualmente cualquier órgano puede estar involucrado. Son enfermedades con potencial y severo compromiso de órganos y elevada morbimortalidad. El objetivo de estas guías fue desarrollar las primeras recomendaciones argentinas para su tratamiento, basadas en la revisión de la literatura mediante metodología GRADE. Un panel de expertos en vasculitis elaboró las preguntas en formato PICO (población, intervención, comparador y outcomes), y luego un panel de expertos en metodología efectuó la revisión de la bibliografía con la extracción de la evidencia para cada una de las preguntas. Se realizó un focus group de pacientes para conocer sus preferencias y experiencias. Finalmente, con la información recabada, el panel de expertos en vasculitis procedió a la votación de las recomendaciones que a continuación se presentan