Focal Task-specific Dystonia among Professional Musicians in Latin America

The authors read with great interest the article ‘‘Focal Task-specific Dystonia— From Early Descriptions to a New, Modern Formulation’’ by Frucht, which presented a new working conceptual model of focal taskspecific dystonia (FTSD) attempting to integrate phenomenology, physiology, and treatment. Nevertheless, several aspects of FTSD remain unresolved, and Frucht suggests that international working groups focusing on musician’s dystonia (MD) could contribute to better understanding in the field. The estimated prevalence of FTSD is 0.5–1% for all professional musicians, although there is wide variation in different populations and in the type of instrument played.2–5 To investigate the data available from their region, the authors conducted a systematic search of MD in Latin America. The Medline, EMBASE, and LILACS databases were explored using the subject terms musician’s dystonia Latin America, focal dystonia Latin America, and prevalence studies of FTSD in highly skilled musicians from Latin America. The authors searched for articles in English and in Spanish. Data from Latin American countries about MD are scarce, and only isolated reports or small series of cases were found in the English literature

Acoustic recordings of rough-toothed dolphin (Steno bredanensis) offshore Eastern Sicily (Mediterranean Sea)

Author Posting. © Acoustical Society of America, 2019. This article is posted here by permission of Acoustical Society of America for personal use, not for redistribution. The definitive version was published in Journal of the Acoustical Society of America 146(3), (2019): EL286-EL292, doi:10.1121/1.5126118.ough-toothed dolphin's abundance and distribution is largely unknown worldwide and evaluation of its conservation status in the Mediterranean Sea is necessary. A rough-toothed dolphin was sighted offshore Eastern Sicily (Mediterranean Sea) in July 2017 and acoustic data were acquired in the same area of Watkins, Tyack, Moore, and Notarbartolo di Sciara [(1987). Mar. Mamm. Sci. 3, 78–82]. An automatic detection algorithm was developed to identify the echolocation clicks recorded within both datasets and a recurrent inter-click interval value was identified during the new encounter. Distinctive whistle classes were also identified with similar contour shapes within both datasets.The research has been partially funded by ONR Award (No. N00014-16-1-3017) and National Natural Science Foundation of China (Nos. 41422604 and 41306169). The authors declare that they have no conflict of interest. They wish to thank Professor Gianni Pavan for the software seapro. F.C. wants to thank the President's International Fellowship Initiative (PIFI) of the Chinese Academy of Sciences. F.C. and V.S. contributed equally to this work.2020-03-2

Successful management of Kaposiform Hemangioendothelioma with long-term sirolimus treatment: a case report and review of the literature

Background: Kaposiform Hemangioendothelioma (KHE) is a rare vascular tumour of the infancy and of the first decade of life. It is locally aggressive and potentially life threatening when associated to consumptive coagulopathy, known as Kasabach-Merritt syndrome (KMS). No consensus or guideline for the therapy has been reached because of the lack of prospective trials and the different standard care suggestions are based on retrospective case series. Case report: We report the case of a 9-month-old male with KHE and KMS in which the initial response, obtained with prednisone and vincristine, was subsequently consolidated and strengthened by long-term treatment with sirolimus, an mTOR inhibitor. A summary of the published data is presented as well. Conclusions: The inhibition of mTOR pathway represents the most important therapeutic innovation introduced in the last few years for KHE. Our case shows the effectiveness and good tolerance of long-term therapy with sirolimus. Keywords: Kaposiform Hemangioendothelioma, Kasabach-Merrit syndrome, sirolimus, prednisone, vincristin

Circulating 25-Hydroxyvitamin D and the Risk of Rarer Cancers: Design and Methods of the Cohort Consortium Vitamin D Pooling Project of Rarer Cancers

The Cohort Consortium Vitamin D Pooling Project of Rarer Cancers (VDPP), a consortium of 10 prospective cohort studies from the United States, Finland, and China, was formed to examine the associations between circulating 25-hydroxyvitamin D (25(OH)D) concentrations and the risk of rarer cancers. Cases (total n = 5,491) included incident primary endometrial (n = 830), kidney (n = 775), ovarian (n = 516), pancreatic (n = 952), and upper gastrointestinal tract (n = 1,065) cancers and non-Hodgkin lymphoma (n = 1,353) diagnosed in the participating cohorts. At least 1 control was matched to each case on age, date of blood collection (1974–2006), sex, and race/ethnicity (n = 6,714). Covariate data were obtained from each cohort in a standardized manner. The majority of the serum or plasma samples were assayed in a central laboratory using a direct, competitive chemiluminescence immunoassay on the DiaSorin LIAISON platform (DiaSorin, Inc., Stillwater, Minnesota). Masked quality control samples included serum standards from the US National Institute of Standards and Technology. Conditional logistic regression analyses were conducted using clinically defined cutpoints, with 50–<75 nmol/L as the reference category. Meta-analyses were also conducted using inverse-variance weights in random-effects models. This consortium approach permits estimation of the association between 25(OH)D and several rarer cancers with high accuracy and precision across a wide range of 25(OH)D concentrations

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

Corticobasal degeneration (CBD) is a neurodegenerative disorder affecting movement and cognition, definitively diagnosed only at autopsy. Here, we conduct a genome-wide association study (GWAS) in CBD cases (n = 152) and 3, 311 controls, and 67 CBD cases and 439 controls in a replication stage. Associations with meta-analysis were 17q21 at MAPT (P = 1.42 x 10(-12)),8p12 at lnc-KIF13B-1, a long non-coding RNA (rs643472;P = 3.41 x 10(-8)),and 2p22 at SOS1 (rs963731;P = 1.76 x 10(-7)). Testing for association of CBD with top progressive supranuclear palsy (PSP) GWAS single-nucleotide polymorphisms (SNPs) identified associations at MOBP (3p22;rs1768208;P = 2.07 x 10(-7)) and MAPT H1c (17q21;rs242557;P = 7.91 x 10(-6)). We previously reported SNP/transcript level associations with rs8070723/MAPT, rs242557/MAPT, and rs1768208/MOBP and herein identified association with rs963731/SOS1. We identify new CBD susceptibility loci and show that CBD and PSP share a genetic risk factor other than MAPT at 3p22 MOBP (myelin-associated oligodendrocyte basic protein)

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

We identified rare coding variants associated with Alzheimer’s disease (AD) in a 3-stage case-control study of 85,133 subjects. In stage 1, 34,174 samples were genotyped using a whole-exome microarray. In stage 2, we tested associated variants (P<1×10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, an additional 14,997 samples were used to test the most significant stage 2 associations (P<5×10-8) using imputed genotypes. We observed 3 novel genome-wide significant (GWS) AD associated non-synonymous variants; a protective variant in PLCG2 (rs72824905/p.P522R, P=5.38×10-10, OR=0.68, MAFcases=0.0059, MAFcontrols=0.0093), a risk variant in ABI3 (rs616338/p.S209F, P=4.56×10-10, OR=1.43, MAFcases=0.011, MAFcontrols=0.008), and a novel GWS variant in TREM2 (rs143332484/p.R62H, P=1.55×10-14, OR=1.67, MAFcases=0.0143, MAFcontrols=0.0089), a known AD susceptibility gene. These protein-coding changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified AD risk genes. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to AD development

Phenolic Compounds and Capsaicinoids in Three Capsicum annuum Varieties: From Analytical Characterization to In Silico Hypotheses on Biological Activity

The affinity of specific phenolic compounds (PCs) and capsaicinoids (CAPs) present in three Capsicum annuum varieties (Friariello, Cayenne and Dzuljunska Sipka) to the transient receptor potential vanilloid member 1 (TRPV1) was investigated by integrating an analytic approach for the simultaneous extraction and analysis through high-performance liquid chromatography coupled with ion trap mass spectrometry (HPLC/ITMS) and UV detection (HPLC-UV) of PCs and CAPs and structural bioinformatics based on the protein modelling and molecular simulations of protein–ligand docking. Overall, a total of 35 compounds were identified in the different samples and CAPs were quantified. The highest content of total polyphenols was recorded in the pungent Dzuljunska Sipka variety (8.91 ± 0.05 gGAE/Kg DW) while the lowest was found in the non-pungent variety Friariello (3.58 ± 0.02 gGAE/Kg DW). Protein modelling generated for the first time a complete model of the homotetrameric human TRPV1, and it was used for docking simulations with the compounds detected via the analytic approach, as well as with other compounds, as an inhibitor reference. The simulations indicate that different capsaicinoids can interact with the receptor, providing details on the molecular interaction, with similar predicted binding energy values. These results offer new insights into the interaction of capsaicinoids with TRPV1 and their possible actions

Paesaggio e Restauro: modello di studio e metodologia applicativa per i giardini del castello di Fosdinovo (Ms) / Landscape and Restoration: model of study and application methodology for the gardens of the Castle of Fosdinovo (MS)

Molti manufatti storici si trovano in stretto rapporto col paesaggio, basti pensare ai numerosi esempi di ville, castelli, fortezze o borghi fortificati in Italia ed in Europa. La cura, la gestione e la valorizzazione dell'uno va a ripercuotersi sull'altro, creando una sinergia di cui il caso di studio del castello di Fosdinovo, in provincia di Massa Carrara, e dei suoi giardini è un esempio. Questo saggio rielabora i contenuti della tesi di Master in Paesaggistica discussa nell'Aprile 2013 (Università degli Studi di Firenze, UniSer di Pistoia). La ricerca si è posta l'obiettivo di analizzare gli aspetti della vulnerabilità tipica dei manufatti storici, prevedendo interventi progettuali di “valorizzazione sostenibile” che possano migliorare  le condizioni di conservazione, senza tralasciare gli aspetti della manutenzione. Tale approccio, analitico e progettuale, può costituire linee guida e piani di gestione da poter seguire per altri manufatti storici, comparabili per caratteristiche e criticità.  Many historical artifacts are in close relationship with landscape: there are many examples of villas, castles, fortresses and fortified villages in Italy and Europe. The care, management and enhancement of these artifacts, have repercussions in landscape and vice versa, creating a synergy in which the case of Fosdinovo Castle and its gardens is an example. This article elaborates the contents of the Master's thesis in Landscape architecture discussed in April 2013 (University of Florence, Uniser of Pistoia). The research has the objective to analyze the aspects of the typical vulnerability in these artifacts, providing project interventions of "sustainable exploitation" that can improve the conservation conditions, without neglecting the aspects of maintenance. The analytical and design approach, can set up guidelines and management plans useful for other historical artifacts, comparable in features and criticality