DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings

Background: DNAJC12 co-chaperone protein deficiency has been recently described as a stand-alone metabolic disorder explaining many cases of mild hyperphenylalaninemia (HPA) that are not caused by variants in the PAH gene, which encodes for the hepatic enzyme phenylalanine hydroxylase (PAH), or inGCH1, PTS, QDPR, PCBD1 and DHPR, involved in tetrahydrobiopterin (BH4) biosynthesis and activity. Results: We describe two sisters born to consanguineous parents. The youngest sister (Patient 1), initially asymptomatic, tested positive at NewBorn Screening (NBS) for mild HPA. After variants in the PAH and BH4 related-genes were excluded, we performed DNAJC12 genetic analysis and found a previously described homozygous deletion [NM_021800.3: c.58_59del p.(Gly20Metfs*2)]. The older sister (Patient 2), homozygous for the same variant and exhibiting mild HPA, was diagnosed subsequently and presented with ataxia and repeated falls, upper limb dyskinesia, intentional tremor, and mild intellectual disability. Patient 1 was started on treatment with low Phenylalanine (Phe) diet, BH4, l-3,4-dihydroxyphenylalanine/carbidopa (L-DOPA) and 5-OH-Tryptophan, soon after diagnosis, and despite poor adherence to the dietary regimen, only manifested language impairment at last follow-up (age 5 years and 4 months). Patient 2, who started the same treatment at school age, experienced a minimal progression of neurological symptoms, with some improvement in her motor skills. Conclusions: These two new patients with DNAJC12-associated HPA, in addition to previous reports, point to DNAJC12 deficiency as a new metabolic syndrome that must be considered in patients with unexplained HPA

Risk perception in the population living near the Turin municipal solid waste incineration plant: Survey results before start-up and communication strategies

Background: The start-up of the Turin municipal solid waste incineration plant (2013) was accompanied by surveillance of health effects, which included a human biomonitoring campaign. Here we present the results of the risk perception survey of local residents before the plant went into operation. Methods: The survey sample was 394 local residents: 198 residing near the plant (exposed group) and 196 residing in an area distant from the plant site (unexposed group). The survey questionnaire investigated awareness of environmental and health issues, including a section on the perception of environmental health risks. Multivariate Poisson regressions were performed to determine the differences in risk perception between the two groups (exposed vs. unexposed). Results: The exposed group was more concerned about natural hazards (prevalence ratio [PR] 1.61; 95% confidence interval [CI] 0.99-2.61), anthropogenic hazards (PR 1.35; 95% CI 1.03-1.77), and waste management (PR 1.19; 95% CI 0.94-1.50). There were no significant differences in opinions about environmental pollution-related diseases between the two groups, though the exposed considered themselves to be at risk for developing these diseases. The survey population placed its trust more in health care providers than in any other category. Conclusions: The risk perception survey questionnaire yielded data that enabled a better understanding and interpretation of the social context: residents living near the incineration plant were more concerned than those living distant from it, especially about anthropogenic hazards. This information was subsequently incorporated into the design the communication tools

CP-odd static electromagnetic properties of the W gauge boson and the t quark via the anomalous tbW coupling

In the framework of the electroweak chiral Lagrangian, the one-loop induced effects of the anomalous $tbW$ coupling, which includes both left- and right-handed complex components, on the static electromagnetic properties of the $W$ boson and the $t$ quark are studied. The attention is focused mainly on the CP-violating electromagnetic properties. It is found that the $tbW$ anomalous coupling can induce both CP-violating moments of the $W$ boson, namely, its electric dipole ($\tilde{\mu}_W$) and magnetic quadrupole ($\tilde{Q}_W$) moments. As far as the $t$ quark is concerned, a potentially large electric dipole moment $(d_t)$ can arise due to the anomalous $tbW$ coupling. The most recent bounds on the left- and right-handed parameters from $B$ meson physics lead to the following estimates $\tilde{\mu}_W ~ 10^{-23}-10^{-22}$ e-cm and $\tilde{Q}_W~ 10^{-38}-10^{-37}$ e-cm$^2$, which are 7 and 14 orders of magnitude larger than the standard model (SM) predictions, whereas $d_t$ may be as large as $10^{-22}$ e-cm, which is about 8 orders of magnitude larger than its SM counterpart.Comment: This paper has been merged with hep-ph/0612171 for publication in Physical Review

A randomized clinical control study on the efficacy of three-dimensional upper limb robotic exoskeleton training in chronic stroke

Background : Although robotics assisted rehabilitation has proven to be effective in stroke rehabilitation, a limited functional improvements in Activities of Daily Life has been also observed after the administration of robotic training. To this aim in this study we compare the efficacy in terms of both clinical and functional outcomes of a robotic training performed with a multi-joint functional exoskeleton in goal-oriented exercises compared to a conventional physical therapy program, equally matched in terms of intensity and time. As a secondary goal of the study, it was assessed the capability of kinesiologic measurements—extracted by the exoskeleton robotic system—of predicting the rehabilitation outcomes using a set of robotic biomarkers collected at the baseline. Methods : A parallel-group randomized clinical trial was conducted within a group of 26 chronic post-stroke patients. Patients were randomly assigned to two groups receiving robotic or manual therapy. The primary outcome was the change in score on the upper extremity section of the Fugl-Meyer Assessment (FMA) scale. As secondary outcome a specifically designed bimanual functional scale, Bimanual Activity Test (BAT), was used for upper limb functional evaluation. Two robotic performance indices were extracted with the purpose of monitoring the recovery process and investigating the interrelationship between pre-treatment robotic biomarkers and post-treatment clinical improvement in the robotic group. Results : A significant clinical and functional improvements in both groups (p < 0.01) was reported. More in detail a significantly higher improvement of the robotic group was observed in the proximal portion of the FMA (p < 0.05) and in the reduction of time needed for accomplishing the tasks of the BAT (p < 0.01). The multilinear-regression analysis pointed out a significant correlation between robotic biomarkers at the baseline and change in FMA score (R2 = 0.91, p < 0.05), suggesting their potential ability of predicting clinical outcomes. Conclusion : Exoskeleton-based robotic upper limb treatment might lead to better functional outcomes, if compared to manual physical therapy. The extracted robotic performance could represent predictive indices of the recovery of the upper limb. These results are promising for their potential exploitation in implementing personalized robotic therapy. Clinical Trial Registration clinicaltrials.gov, NCT03319992 Unique Protocol ID: RH-UL-LEXOS-10. Registered 20.10.2017, https://clinicaltrials.gov/ct2/show/NCT0331999

Two-dimensional Quantum Black Holes, Branes in BTZ and Holography

We solve semiclassical Einstein equations in two dimensions with a massive source and we find a static, thermodynamically stable, quantum black hole solution in the Hartle-Hawking vacuum state. We then study the black hole geometry generated by a boundary mass sitting on a non-zero tension 1-brane embedded in a three-dimensional BTZ black hole. We show that the two geometries coincide and we extract, using holographic relations, information about the CFT living on the 1-brane. Finally, we show that the quantum black hole has the same temperature of the bulk BTZ, as expected from the holographic principle.Comment: 10 pages, 2 figures, RevTex, ``point particle of mass \mu '' changed with ``massive boundary source'' for better clarity. Action in (50) written in Z_2 symmetric form. Appendix clarified. Minor corrections and references added. Version accepted for pubblication in PRD15 (2006

A 20 GHz bright sample for {\delta} > +72{\deg}: I. Catalogue

During 2010-2011, the Medicina 32-m dish hosted the 7-feed 18-26.5 GHz receiver built for the Sardinia Radio Telescope, with the goal to perform its commissioning. This opportunity was exploited to carry out a pilot survey at 20 GHz over the area for {\delta} > + 72.3{\deg}. This paper describes all the phases of the observations, as they were performed using new hardware and software facilities. The map-making and source extraction procedures are illustrated. A customised data reduction tool was used during the follow-up phase, which produced a list of 73 confirmed sources down to a flux density of 115 mJy. The resulting catalogue, here presented, is complete above 200 mJy. Source counts are in agreement with those provided by the AT20G survey. This pilot activity paves the way to a larger project, the K-band Northern Wide Survey (KNoWS), whose final aim is to survey the whole Northern Hemisphere down to a flux limit of 50 mJy (5{\sigma}).Comment: 10 pages, 10 figures. Accepted by MNRA