arthroscopic treatment of anteromedial coronoid fracture complete functional recovery at one year follow up

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Exercise Combined with Electrotherapy Enhances Motor Function in an Adolescent with Spinal Muscular Atrophy Type III

Background. Electrotherapy is widely used in physical therapy to increase muscle mass, improve motor function, and assist physical activity in several neurologic conditions. However, concerning Spinal Muscular Atrophy (SMA), limited evidence exists on the role of electrotherapy as an adjunct for improving muscle strength and function. Case Report. An adolescent (13 y.o.) with SMA type III underwent an 18-week strengthening program divided into two stages. During Phase I (weeks: 1-8), a home-based program for quadriceps strengthening through neuromuscular electrical stimulation (NMES) was provided. In Phase II (weeks: 9-18), at-home NMES was combined with functional electrical stimulation (FES) assisting volitional cycling for a broader, systemic conditioning. The treatment improved patient's structural and functional motor outcomes (quadriceps circumference and strength, Tinetti scale, and Hammersmith scale) as well as independence in stair climbing. Clinical Rehabilitation Impact. The purpose of this report is to raise awareness of the potential role of electrotherapy to help improving motor performance in SMA patients and, secondly, to foster further research aimed at assessing the actual contribution this intervention may have as an add-on therapy to existing care

An optical spectroscopic survey of the 3CR sample of radio galaxies with z<0.3. V. Implications for the unified model for FRIIs

We explore the implications of our optical spectroscopic survey of 3CR radio sources with z < 0.3 for the unified model (UM) for radio-loud AGN, focusing on objects with a "edge-brightened" (FR II) radio morphology. The sample contains 33 high ionization galaxies (HIGs) and 18 broad line objects (BLOs). According to the UM, HIGs, the narrow line sources, are the nuclearly obscured counterparts of BLOs. The fraction of HIGs indicates a covering factor of the circumnuclear matter of 65% that corresponds, adopting a torus geometry, to an opening angle of 50\ub0 \ub1 5. No dependence on redshift and luminosity on the torus opening angle emerges. We also consider the implications for a "clumpy" torus. The distributions of total radio luminosity of HIGs and BLOs are not statistically distinguishable, as expected from the UM. Conversely, BLOs have a radio core dominance, R, more than ten times larger with respect to HIGs, as expected in case of Doppler boosting when the jets in BLOs are preferentially oriented closer to the line of sight than in HIGs. Modeling the R distributions leads to an estimate of the jet bulk Lorentz factor of \u393 ~ 3-5. The test of the UM based on the radio source size is not conclusive due to the limited number of objects and because the size distribution is dominated by the intrinsic scatter rather than by projection effects. The [O II] line luminosities in HIGs and BLOs are similar but the [O III] and [O I] lines are higher in BLOs by a factor of ~2. We ascribe this effect to the presence of a line emitting region located within the walls of the obscuring torus, visible in BLOs but obscured in HIGs, with a density higher than the [O II] critical density. We find evidence that BLOs have broader [O I] and [O III] lines than HIGs of similar [O II] width, as expected in the presence of high density gas in the proximity of the central black hole. In conclusion, the radio and narrow line region (NLR) properties of HIGs and BLOs are consistent with the UM predictions when the partial obscuration of the NLR is taken into account. We also explored the radio properties of 21 3CR low ionization galaxies with a FR II radio morphology at z < 0.3. We find evidence that they cannot be part of the model that unifies HIGs and BLOs, but they are instead intrinsically different source, still reproduced by a randomly oriented population

A model for the cosmological evolution of low frequency radio sources

We present a new evolutionary model that describes the population properties of radio sources at frequencies <5 GHz, thus complementing the De Zotti et al. (2005) model, holding at higher frequencies. We find that simple analytic luminosity evolution is still sufficient to fit the wealth of available data on local luminosity functions, multi-frequency source counts, and redshift distributions. However, the fit requires a luminosity-dependent decline of source luminosities at high redshifts, at least for steep-spectrum sources, thus confirming earlier indications of a "downsizing" also for radio sources. The upturn of source counts at sub-mJy levels is accounted for by a straightforward extrapolation, using the empirical far-IR/radio correlation, of evolutionary models matching the far-IR counts and redshift distributions of star-forming galaxies. We also discuss the implications of the new model for the interpretation of data on large-scale clustering of radio sources and on the Integrated Sachs-Wolfe (ISW) effect, and for the investigation of the contribution of discrete sources to the extragalactic background. As for the ISW effect, a new analysis exploiting a very clean CMB map, yields at a substantially higher significance than reported before.Comment: 14 pages, 11 figures, accepted for publication on MNRA

Serum NFL as a predictor of disease progression in dementia with Lewy bodies

AbstractBackgroundCSF and plasma neurofilament light chain (NfL) levels have been consistently proposed as reliable markers of neurodegeneration able to discriminate between Parkinson's disease (PD) and atypical parkinsonisms. Increased Serum NfL might predict worse motor and cognitive progression in PD patients at single subject level.Methodplasma NfL was assessed in a longitudinal study including 93 patients with Parkinson's disease and 27 patients with DLB who underwent an extensive motor and cognitive assessment and after 2 years of follow‐up. The study evaluated the correlation between NfL plasma levels and motor, non‐motor symptoms, cognitive and behavioral abnormalities in the two cohorts, as well as benignant/malignant phenotypes and motor/cognitive progression in PD after 2 years of follow‐up.ResultSerum NfL correlated with age and age at onset in the cohort. In DLB, NfL correlated with disease duration, hyposmia and neuropsychiatric symptoms, but not with motor function assessed by UPDRS‐III. We found no significant associations between NfL and disease progression in DLB patients. In PD, higher NfL levels correlated with hyposmia (p=0.01), total UPDRS‐II and UPDRS‐III scores (0.001), gait speed (0.04) and several disability milestones, including mild cognitive impairment (0.001), symptomatic dysautonomia (0.001), loss of independency in activities of daily living (p=0.01) and instrumental daily living (p=0.001). At two years of follow‐up, NfL was the best marker in multivariate regression analyses for both motor and cognitive progression beyond malignant/benignant phenotypes.ConclusionElevated serum NfL levels are associated with fast progression in PD patients and could thus represent target of interventions in specific subpopulation of patients

Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study.

We investigated whether progranulin plasma levels are predictors of the presence of progranulin gene (GRN) null mutations or of the development of symptoms in asymptomatic at risk members participating in the Genetic Frontotemporal Dementia Initiative, including 19 patients, 64 asymptomatic carriers, and 77 noncarriers. In addition, we evaluated a possible role of TMEM106B rs1990622 as a genetic modifier and correlated progranulin plasma levels and gray-matter atrophy. Plasma progranulin mean ± SD plasma levels in patients and asymptomatic carriers were significantly decreased compared with noncarriers (30.5 ± 13.0 and 27.7 ± 7.5 versus 99.6 ± 24.8 ng/mL, p 61.55 ng/mL, the test had a sensitivity of 98.8% and a specificity of 97.5% in predicting the presence of a mutation, independent of symptoms. No correlations were found between progranulin plasma levels and age, years from average age at onset in each family, or TMEM106B rs1990622 genotype (p > 0.05). Plasma progranulin levels did not correlate with brain atrophy. Plasma progranulin levels predict the presence of GRN null mutations independent of proximity to symptoms and brain atrophy

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended cohort of 1,808 patients with frontotemporal lobar degeneration (FTLD), ascertained within the European Early-Onset Dementia consortium. As control dataset, we sequenced 1,625 European control individuals and analyzed whole-exome sequence data of 2,274 German individuals (total n = 3,899). Association of rare SQSTM1 mutations was calculated in a meta-analysis of 4,332 FTLD and 10,240 control alleles. We identified 25 coding variants in FTLD patients of which 10 have not been described. Fifteen mutations were absent in the control individuals (carrier frequency < 0.00026) whilst the others were rare in both patients and control individuals. When pooling all variants with a minor allele frequency < 0.01, an overall frequency of 3.2 % was calculated in patients. Rare variant association analysis between patients and controls showed no difference over the whole protein, but suggested that rare mutations clustering in the UBA domain of SQSTM1 may influence disease susceptibility by doubling the risk for FTLD (RR = 2.18 [95 % CI 1.24-3.85]; corrected p value = 0.042). Detailed histopathology demonstrated that mutations in SQSTM1 associate with widespread neuronal and glial phospho-TDP-43 pathology. With this study, we provide further evidence for a putative role of rare mutations in SQSTM1 in the genetic etiology of FTLD and showed that, comparable to other FTLD/ALS genes, SQSTM1 mutations are associated with TDP-43 pathology