The disease-specific Unified Multiple System Atrophy Rating Scale (UMSARS) has been developed recently and validated for assessing disease severity in multiple system atrophy (MSA). Here, we aimed at (1) assessing rates of disease progression in MSA and (2) validating UMSARS for sensitivity to change over time. Impairment was assessed at two time points 12 months apart using UMSARS Part I (historical review), UMSARS Part II (motor examination), as well as measures of global disease severity, including UMSARS Part IV, Hoehn and Yahr (HY) Parkinson's disease staging, Schwab England Activities of Daily Living (SE ADL), and a three-point global Severity Scale (SS3). Fifty patients (male:female ratio, 1:0.9; possible MSA, 16%; probable MSA, 84%; MSA-parkinsonian, 58%; MSA-cerebellar, 42%) were assessed twice with an interval of 12.3 months. UMSARS II scores progressed by 57.3% (P<0.0001) and UMSARS I scores by 35.6% (P<0.0001) in relation to the respective baseline scores with no differences between motor subtypes, diagnostic categories and gender. Significant inverse correlations between (1) UMSARS I or UMSARS II progression and (2) baseline disability measures (i.e., the respective UMSARS or SS3 scores) and disease duration were found. Furthermore, the increases in HY staging, SE ADL and SS3 correlated significantly with UMSARS I, UMSARS II, and UMSARS IV progression. This report is the first prospective study showing rapid annual UMSARS rates of decline in MSA. Our data contribute to the ongoing validation process of UMSARS, and they facilitate the planning and implementation of future neuroprotective intervention trials.

Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, spasticity, mental deterioration, and blindness. It is due to mutations in the deafness/dystonia peptide (DDP1) gene. We describe a sporadic 42-year-old man with MTS presenting with postlingual deafness, adult-onset progressive dystonia with marked arm tremor, mild spasticity of the legs, and visual disturbance due to a novel mutation (g to a transition at the invariant gt of the 5' splice donor site of exon 1) in the DDP1 gene. This case, and a review of previously reported cases, highlights a variety of potential diagnostic pitfalls in this condition.

The levels of fluoride in various ground water sources in East Africa are above the World Health Organization upper limit of 1.5 mg/L. Research on diverse defluoridation technologies has proven that adsorption stands out as an affordable, efficient, and facile technology. Fish swim bladder-derived porous carbon (FBPC) activated by KOH and surface oxidized by nitric acid was successfully investigated as an adsorbent for defluoridation at portable water pH. The FBPC was characterized by scanning electron microscopy (SEM), transmission electron microscopy (TEM), X-raydiffraction (XRD) and energy dispersive spectroscopy (EDS). Batch methods were used to study physiochemical parameters viz., initial fluoride concentration, temperature, adsorbate dosage, contact time and pH. Freundlich, Temkin, Langmuir and Dubinin-Radushkevich isotherms were plotted and analyzed to understand the adsorption process. Bangham, Weber Morris, pseudo first and second-order models were used to elucidate the kinetics of adsorption. Optimal conditions for fluoride removal were found to be: pH of 6, FBPC adsorbent dose of 5.0 g/L and contact time of 50 min. Flouride adsorption followed pseudo second-order kinetic model and Langmuir isotherm best describes the adsorption process.