Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

Oculodentodigital dysplasia is an autosomal dominant disorder due to variants characterized by dysmorphic features. Neurologic symptoms have been described in some patients but without a clear neuroimaging pattern. To understand the pathophysiology underlying neurologic deficits in oculodentodigital dysplasia, we studied 8 consecutive patients presenting with hereditary spastic paraplegia due to variants. Clinical disease severity was highly variable. Cerebral MR imaging revealed variable white matter abnormalities, consistent with a hypomyelination pattern, and bilateral hypointense signal of the basal ganglia on T2-weighted images and/or magnetic susceptibility sequences, as seen in neurodegeneration with brain iron accumulation diseases. Patients with the more prominent basal ganglia abnormalities were the most disabled ones. This study suggests that -related hereditary spastic paraplegia is a complex neurodegenerative disease affecting both the myelin and the basal ganglia. variants should be considered in patients with hereditary spastic paraplegia presenting with brain hypomyelination, especially if associated with neurodegeneration and a brain iron accumulation pattern

Efeito do cloreto de sódio sobre as respostas fisiológicas e controle de helmintos monogenóides em tambaqui (Colossoma macropomum) Effect of sodium chloride on physiological responses and monogenean control in tambaqui (Colossoma macropomum)

O objetivo deste trabalho foi avaliar o efeito do sal (NaCl) sobre as respostas fisiológicas e controle de helmintos monogenóides em tambaqui (Colossoma macropomum). Para isso, juvenis de tambaqui (42,38 ± 0,47 g; 13,90 ± 0,06 cm) foram transferidos para tanques de 350L e aclimatados por um período de 24 horas. Os ensaios foram conduzidos utilizando as concentrações de 0, 2, 4, 6 e 8 g de sal comum L-1 de água, nos tempos de exposição de 30, 60 e 120 minutos, com três repetições por tratamento. A tolerância dos tambaquis ao sal e a eficácia deste sobre os helmintos monogenóides foi avaliada mediante análise dos indicadores fisiológicos (glicose, cloretos, sódio e potássio plasmático) e parasitológicos (número total de parasitas e prevalência). Tambaquis expostos a 4 g NaCl L-1 por 120 minutos, 6 e 8 g NaCl L-1 por 60 e 120 minutos apresentaram maior elevação da glicose plasmática e na concentração de 8 g NaCl L-1 por 120 minutos maiores níveis de cloreto plasmático. A prevalência de monogenóides nas brânquias foi de 100% e todas as concentrações de sal avaliadas neste estudo não foram eficazes na redução dos helmintos monogenóides em tambaqui.<br>The objective of this work was to evaluate the effect of salt (NaCl) on physiological responses and monogenean control in tambaqui (Colossoma macropomum). Juveniles of tambaqui (42.38 ± 0.47 g; 13.90 ± 0.06 cm) were transferred to 350L tanks and acclimated for a period of 24 hours. The assays were conducted using the concentrations of 0, 2, 4, 6 and 8 g of NaCl L-1 of water, exposed to 30, 60 and 120 minutes, with three replicates in each treatment. The tambaqui tolerance to salt and the efficacy against monogenean were evaluated by physiological analysis (glucose, chloride, sodium and potassium plasmatic concentrations) and parasitic indices (total number of parasites and prevalence). Tambaquis exposed to 4 g NaCl L-1 for 120 minutes, 6 and 8 g NaCl L-1 for 60 and 120 minutes showed increased glucose levels while those exposed to 8 g NaCl L-1 for 120 minutes presented increased chloride levels. The prevalence of monogeneans in the gills of tambaqui was 100% and the salt concentrations evaluated in this study were not effective in the reduction of monogenean parasites