Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).

INTRODUCTION: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a biallelic mutation of the SMN1 gene, located on the long arm of chromosome 5, and predominantly affects the motor neurons of the anterior horn of the spinal cord, causing progressive muscle weakness and atrophy. The development of disease-modifying treatments is significantly changing the natural history of SMA, but uncertainty remains about which patients can benefit from these treatments and how that benefit should be measured. METHODOLOGY: A group of experts specialised in neurology, neuropediatrics, and rehabilitation and representatives of the Spanish association of patients with SMA followed the Delphi method to reach a consensus on 5 issues related to the use of these new treatments: general aspects, treatment objectives, outcome assessment tools, requirements of the treating centres, and regulation of their use. Consensus was considered to be achieved when a response received at least 80% of votes. RESULTS: Treatment protocols are useful for regulating the use of high-impact medications and should guide treatment, but should be updated regularly to take into account the most recent evidence available, and their implementation should be assessed on an individual basis. Age, baseline functional status, and, in the case of children, the type of SMA and the number of copies of SMN2 are characteristics that should be considered when establishing therapeutic objectives, assessment tools, and the use of such treatments. The cost-effectiveness of these treatments in paediatric patients is mainly influenced by early treatment onset; therefore, the implementation of neonatal screening is recommended. CONCLUSIONS: The RET-AME consensus recommendations provide a frame of reference for the appropriate use of disease-modifying treatments in patients with SMA.

Removal of bacteria, protozoa and viruses through a multiple-barrier household water disinfection system.

Municipal water disinfection systems in some areas are not always able to meet water consumer needs, such as ensuring distributed water quality, because household water management can be a contributing factor in water re-contamination. This fact is related to the storage options that are common in places where water is scarce or is distributed over limited time periods. The aim of this study is to assess the removal capacity of a multiple-barrier water disinfection device for protozoa, bacteria, and viruses. Water samples were taken from households in Mexico City and spiked with a known amount of protozoa (Giardia cyst, Cryptosporidium oocyst), bacteria (Escherichia coli), and viruses (rotavirus, adenovirus, F-specific ribonucleic acid (FRNA) coliphage). Each inoculated sample was processed through a multiple-barrier device. The efficiency of the multiple-barrier device to remove E. coli was close to 100%, and more than 87% of Cryptosporidium oocysts and more than 98% of Giardia cysts were removed. Close to 100% of coliphages were removed, 99.6% of the adenovirus was removed, and the rotavirus was almost totally removed. An effect of site by zone was detected; this observation is important because the water characteristics could indicate the efficiency of the multiple-barrier disinfection device.

Enfermedad de Gorham como causa de lesión medular en la infancia: a propósito de un caso / Gorham's disease as a cause of spinal cord injury in childhood: a case report

Se presenta el caso de un niño de 11 años de edad, diagnosticado un año antes de enfermedad de Gorham con afectación ósea múltiple a nivel de tórax y columna dorsal. En el curso de la enfermedad apareció daño medular secundario. Fue intervenido quirúrgicamente realizándose una fusión vertebral para detener la progresión del cuadro clínico y la deformidad de columna. En el postoperatorio inmediato se evidenció cuadro de lesión medular completa motora e incompleta sensitiva precisando tratamiento rehabilitador precoz. En el síndrome de Gorham-Stout la afectación vertebral es infrecuente, siendo la mielopatía una grave complicación. La recuperación de las secuelas neurológicas precisa un programa de rehabilitación adecuado a la gravedad de las mismas. El síndrome de Gorham-Stout es un trastorno esquelético raro de etiología y patogénesis desconocidas. Puede afectar a cualquier hueso del esqueleto, siendo la afectación de la columna vertebral un hallazgo raro. Cuando aparece como complicación una mielopatía, esta se considera una complicación grave (AU)

Gorham-Stout syndrome is a rare skeletal disorder of unknown etiology and pathogenesis. It can affect any bone of the skeleton, involvement of the spine being a rare finding. Myelopathy, when it appears, is considered a serious complication. The case is presented of an 11- year old boy who had been diagnosed 1 year earlier of Gorham disease with multiple bone involvement on the chest and spine level. Secondary bone marrow damage appeared during the course of the disease. He was referred to our hospital where was underwent surgery, performing spinal fusion to halt the spinal deformity progression and the clinical course. In the immediate postoperative period, a complete motor and incomplete sensory spinal cord injury was observed, which required early rehabilitation treatment. In Gorham-Stout syndrome, vertebral involvement is uncommon, myelopathy being a serious complication. Neurologic recovery requires a comprehensive rehabilitation program adapted to its severity (AU)