Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis.

BACKGROUND: Nephropathic cystinosis is a lysosomal storage disorder with late-onset systemic complications, such as myopathy and dysphagia. Currently employed outcome measures lack sensitivity and responsiveness for dysphagia and myopathy, a limitation to clinical trial readiness. METHODS: We evaluated 20 patients with nephropathic cystinosis in two visits over the course of a year to identify outcomes sensitive to detect changes over time. Patients also underwent an expiratory muscle strength training program to assess any effects on aspiration and dysphagia. RESULTS: There were significant differences in the Timed Up and Go Test (TUG) and Timed 25-Foot Walk (25-FW) between baseline and 1-y follow-up (P < .05). Maximum expiratory pressure (MEP) and peak cough flow (PCF) significantly improved following respiratory training (P < .05). CONCLUSIONS: Improved respiratory outcomes may enhance patients ability to expel aspirated material from the airway, stave off pulmonary sequelae associated with chronic aspiration, and yield an overall improvement in physical health and well-being.

Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease.

BACKGROUND: The aim of this analysis was to evaluate the psychometric properties of three patient reported outcome (PRO) measures characterizing physical function in GNE myopathy: the Human Activity Profile, the Inclusion Body Myositis Functional Rating Scale, and the Activities-specific Balance Confidence scale. METHODS: This analysis used data from 35 GNE myopathy subjects participating in a natural history study. For construct validity, correlational and known-group analyses were between the PROs and physical assessments. Reliability of the PROs between baseline and 6 months was evaluated using the intra-class correlation coefficient model; internal consistency was tested with Cronbach's alpha. RESULTS: The hypothesized moderate positive correlations for construct validity were supported; the strongest correlation was between the human activity profile adjusted activity score and the adult myopathy assessment endurance subscale score (r = 0.81; p < 0.0001). The PROs were able to discriminate between known high and low functioning groups for the adult myopathy assessment tool. Internal consistency of the PROs was high (α > 0.8) and there was strong reliability (ICC >0.62). CONCLUSION: The PROs are valid and reliable measures of physical function in GNE myopathy and should be incorporated in investigations to better understand the impact of progressive muscle weakness on physical function in this rare disease population. Implications for Rehabilitation GNE myopathy is a rare muscle disease that results in slow progressive muscle atrophy and weakness, ultimately leading to wheelchair use and dependence on a caregiver. There is limited knowledge on the impact of this disease on the health-related quality of life, specifically physical function, of this rare disease population. Three patient reported outcomes have been shown to be valid and reliable in GNE myopathy subjects and should be incorporated in future investigations to better understand how progressive muscle weakness impacts physical functions in this rare disease population. The patient reported outcome scores of GNE myopathy patients indicate a high risk for falls and impaired physical functioning, so it is important clinicians assess and provide interventions for these subjects to maintain their functional capacity.

Valoración de la exactitud de la infiltración de toxina botulínica a ciegas en niños y adolescentes con parálisis cerebral / Blinded evaluation of the accuracy of botulinum toxin in children and adolescents with cerebral palsy

Objetivos. Evaluar la exactitud de la infiltración manual frente a la guiada con electroestimulación de los músculos distales o profundos de las extremidades. Material y método. Estudio prospectivo en el que se infiltran 289 músculos en 29 pacientes afectos de parálisis cerebral con edades comprendidas entre 1 y 19 años, comparándose la exactitud de la infiltración guiada por referencias anatómicas asociada a la reproducción del movimiento muscular frente a aquella realizada mediante guía con electroestimulación. Resultados. Se muestran los distintos patrones de espasticidad tratados y los porcentajes de aciertos obtenidos en cada músculo al realizar infiltración guiada mediante referencias anatómicas. Existe un porcentaje de aciertos inferior al 50% en 10 de los 16 músculos infiltrados. Conclusiones. La infiltración de los músculos pequeños, profundos y distales precisa de una guía instrumentada, de las cuales la electroestimulación es asequible y certera(AU)

Objective. To evaluate the accuracy of manual infilitration versus electrostimulation-guided of the distal or deep muscles of the limbs. Material and method. A prospective study was carried out in which 289 muscles were injected in 29 patients who had cerebral palsy (aged 1 to 19years). The accuracy of manual puncturing following anatomical references associated to the reproduction of muscle movement was compared to that guided by electrostimulation. Results. The spasticity patterns treated as well as the percentages of successful injections guided for anatomical reference for each muscle are shown. The percentage of successful injections was <50% in 10 out of the 16 muscles injected. Conclusions. To inject small, deep and distal muscles, an instrumental guide such as electrostimulation, which is both easily available and accurate, is required(AU)

Resultados funcionales de la prótesis total radiocubital distal: caso clínico y revisión de la bibliografía / Functional outcomes of total distal radioulnar joint: a case report and review of the literature

La articulación radio cubital distal (ARCD) resulta imprescindible para poder elevar objetos contra gravedad. En las lesiones de dicha articulación, es necesario reconstruir todos los elementos articulares y estabilizadores para poder soportar la fuerzas de tensión en muñeca y antebrazo y evitar una importante pérdida de función de la extremidad. La prótesis total radiocubital distal promulgada por Scheker es una alternativa novedosa para reparar anatómica y biomecánicamente esta articulación, ya que los procedimientos previos (resección, artrodesis o hemiartroplastia) no han mostrado resultados satisfactorios. Se presenta el caso de una paciente con inestabilidad de muñeca por disfunción de la ARCD en la que se implantó dicho modelo protésico y se desarrolló un programa de rehabilitación posquirúrgico previamente no descrito, de 12 semanas de duración. Se exponen unos resultados funcionales excelentes y se comparan con los publicados en la bibliografía(AU)

The distal radioulnar joint (DRUJ) is very important for lifting objects. When the DRUJ is injured, all of the joint elements and stabilizing elements must be reconstructed in order to be able to support the tension forces on the wrist and forearm and avoid significant loss of limb functions. The total DRUJ prosthesis developed by Scheker is a new alternative to be taken into account. It seems to allow anatomical and biomechanical repair of the DRUJ. Moreover, it gives better results than previously published procedures (removal, arthrodesis and hemiarthroplasty of the DRUJ). We present the case of a woman with symptomatic wrist instability due to dysfunction of the DRUJ who underwent Scheker's arthroplasty. In the postoperative period, we designed a new 12-week rehabilitation program, which gave us an excellent result. Finally we discuss our case, comparing them with those previously reported in the literature(AU)