Mobile Phone Data for Mapping Urban Dynamics

During the last few years, new tools for estimating people’s density in cities have emerged through mobile network data. As opposed to the more traditional methods of urban surveys, the use of aggregated and anonymous mobile phone network log files has shown promise for large-scale surveys with notably smaller efforts and costs. Moreover, a frequent data feed from the mobile network has been argued to demonstrate fine grain over-time variation in urban movements, lacking from the traditional prediction methods. Despite the positivist approach to the new methodology, additional evidence is needed to show how mobile network data correlate with the actual presence of people, and how they can be used to map different urban domains. We try to address this shortcoming presenting the results of a research carried out in Lombardy Region, using mobile phone data provided by Telecom Italia, as a promising approach to assist the traditional database and analysis of urban dynamics as new challenges for urban plannin

Actions of the braid group, and new algebraic proofs of results of Dehornoy and Larue

This article surveys many standard results about the braid group with emphasis on simplifying the usual algebraic proofs. We use van der Waerden's trick to illuminate the Artin-Magnus proof of the classic presentation of the algebraic mapping-class group of a punctured disc. We give a simple, new proof of the Dehornoy-Larue braid-group trichotomy, and, hence, recover the Dehornoy right-ordering of the braid group. We then turn to the Birman-Hilden theorem concerning braid-group actions on free products of cyclic groups, and the consequences derived by Perron-Vannier, and the connections with the Wada representations. We recall the very simple Crisp-Paris proof of the Birman-Hilden theorem that uses the Larue-Shpilrain technique. Studying ends of free groups permits a deeper understanding of the braid group; this gives us a generalization of the Birman-Hilden theorem. Studying Jordan curves in the punctured disc permits a still deeper understanding of the braid group; this gave Larue, in his PhD thesis, correspondingly deeper results, and, in an appendix, we recall the essence of Larue's thesis, giving simpler combinatorial proofs.Comment: 51`pages, 13 figure

Generalized Jacobi identities and ball-box theorem for horizontally regular vector fields

We consider a family of vector fields and we assume a horizontal regularity on their derivatives. We discuss the notion of commutator showing that different definitions agree. We apply our results to the proof of a ball-box theorem and Poincar\'e inequality for nonsmooth H\"ormander vector fields.Comment: arXiv admin note: material from arXiv:1106.2410v1, now three separate articles arXiv:1106.2410v2, arXiv:1201.5228, arXiv:1201.520

Prevalence of Vertebral Fractures in Osteoporotic HIP Fractured Patients: The Focus Study

Osteoporosis is a multifactorial systemic skeletal disease, characterized by low bone mass and microarchitectural modifications of bone tissue, with a consequent increase in fragility fractures. Vertebral fractures are the most prevalent osteoporotic fractures and osteoporotic hip fractures are the most serious complication of osteoporosis resulting in increased mortality and high socio-economic cost. The coexistence of these two pathological conditions in elderly patients has been previously described, leading to even worse functional outcomes than each one alone. To determine the prevalence of vertebral fractures in osteoporotic hip fractured women and to evaluate the relationship between prevalence of vertebral fractures and pre-existing factors such us autonomy in daily life activity, quality of walking, numbers of falls, cognitive aspects and comorbidities. 946 osteoporotic hip fractured women aged more than 60 years and with an X-ray evaluation of spine were consecutively enrolled in 25 Orthopaedic, Physical Medicine and geriatric centers in Italy. After spine X-ray morphometry patients were divided in two groups: previous vertebral fracture (F) and no previous fracture (NF). Moreover anamnestic, demographical and outcome related data (ADL, IADL, CIRS, SPMSQ, FAC and RANKIN scale) were collected. Prevalent vertebral fractures were present in 502 (54%) patients. 119 (13.7%) patients had at least one severe fracture. The F compared to NF group showed statistically significant worse scores regarding the pre hip fracture values of RANKIN, CIRS, SPMSQ, IADL and the overall number of falls (p<0.001). Moreover the F group showed statistically significant lower values of serif 25(OH)D than NF group (p<.0.001). Previous Vertebral fractures in hip fractured patients are a common issue and negatively influence several functional and cognitive outcome measures in these patients

Removing krypton from xenon by cryogenic distillation to the ppq level

The XENON1T experiment aims for the direct detection of dark matter in a cryostat filled with 3.3 tons of liquid xenon. In order to achieve the desired sensitivity, the background induced by radioactive decays inside the detector has to be sufficiently low. One major contributor is the $\beta$-emitter $^{85}$Kr which is an intrinsic contamination of the xenon. For the XENON1T experiment a concentration of natural krypton in xenon $\rm{^{nat}}$Kr/Xe < 200 ppq (parts per quadrillion, 1 ppq = 10$^{-15}$ mol/mol) is required. In this work, the design of a novel cryogenic distillation column using the common McCabe-Thiele approach is described. The system demonstrated a krypton reduction factor of 6.4$\cdot$10$^5$ with thermodynamic stability at process speeds above 3 kg/h. The resulting concentration of $\rm{^{nat}}$Kr/Xe < 26 ppq is the lowest ever achieved, almost one order of magnitude below the requirements for XENON1T and even sufficient for future dark matter experiments using liquid xenon, such as XENONnT and DARWIN

Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

Classic Ehlers-Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility. A recent study demonstrated that more than 90% of patients who satisfy all of these major criteria harbor a type V collagen (COLLV) defect. This cohort included 40 patients with cEDS who were clinically diagnosed according to the Villefranche nosology. The flowchart that was adopted for mutation detection consisted of sequencing the COL5A1 gene and, if no mutation was detected, COL5A2 analysis. In the negative patients the presence of large genomic rearrangements in COL5A1 was investigated using MLPA, and positive results were confirmed via SNP-array analysis. We report the clinical and molecular characterization of 40 patients from 28 families, consisting of 14 pediatric patients and 26 adults. A family history of cEDS was present in 9 patients. The majority of the patients fulfilled all the major diagnostic criteria for cEDS; atrophic scars were absent in 2 females, skin hyperextensibility was not detected in a male and joint hypermobility was negative in 8 patients (20% of the entire cohort). Wide inter- and intra-familial phenotypic heterogeneity was observed. We identified causal mutations with a detection rate of approximately 93%. In 25/28 probands, COL5A1 or COL5A2 mutations were detected. Twenty-one mutations were in the COL5A1 gene, 18 of which were novel (2 recurrent). Of these, 16 mutations led to nonsense-mediated mRNA decay (NMD) and to COLLV haploinsufficiency and 5 mutations were structural. Two novel COL5A2 splice mutations were detected in patients with the most severe phenotypes. The known p. (Arg312Cys) mutation in the COL1A1 gene was identified in one patient with vascular-like cEDS. Our findings highlight that the three major criteria for cEDS are useful and sufficient for cEDS clinical diagnosis in the large majority of the patients. The borderline patients for whom these criteria fail can be diagnosed when minor signs of connective tissue diseases and family history are present and when genetic testing reveals a defect in COLLV. Our data also confirm that COL5A1 and COL5A2 are the major, if not the only, genes involved in cEDS

Search for squarks and gluinos with the ATLAS detector in final states with jets and missing transverse momentum using √s=8 TeV proton-proton collision data

A search for squarks and gluinos in final states containing high-p T jets, missing transverse momentum and no electrons or muons is presented. The data were recorded in 2012 by the ATLAS experiment in s√=8 TeV proton-proton collisions at the Large Hadron Collider, with a total integrated luminosity of 20.3 fb−1. Results are interpreted in a variety of simplified and specific supersymmetry-breaking models assuming that R-parity is conserved and that the lightest neutralino is the lightest supersymmetric particle. An exclusion limit at the 95% confidence level on the mass of the gluino is set at 1330 GeV for a simplified model incorporating only a gluino and the lightest neutralino. For a simplified model involving the strong production of first- and second-generation squarks, squark masses below 850 GeV (440 GeV) are excluded for a massless lightest neutralino, assuming mass degenerate (single light-flavour) squarks. In mSUGRA/CMSSM models with tan β = 30, A 0 = −2m 0 and μ > 0, squarks and gluinos of equal mass are excluded for masses below 1700 GeV. Additional limits are set for non-universal Higgs mass models with gaugino mediation and for simplified models involving the pair production of gluinos, each decaying to a top squark and a top quark, with the top squark decaying to a charm quark and a neutralino. These limits extend the region of supersymmetric parameter space excluded by previous searches with the ATLAS detector

Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms

With the intent of dissecting the molecular complexity of Philadelphia-negative myeloproliferative neoplasms (MPN), we designed a target enrichment panel to explore, using next-generation sequencing (NGS), the mutational status of an extensive list of 2,000 cancer-associated genes and microRNAs. The genomic DNA of granulocytes and in-vitro-expanded CD3+ T-lymphocytes, as a germline control, was target-enriched and sequenced in a learning cohort of 20 MPN patients using Roche 454 technology. We identified 141 genuine somatic mutations, most of which were not previously described. To test the frequency of the identified variants, a larger validation cohort of 189 MPN patients was additionally screened for these mutations using Ion Torrent AmpliSeq NGS. Excluding the genes already described in MPN, for 8 genes (SCRIB, MIR662, BARD1, TCF12, FAT4, DAP3, POLG, and NRAS), we demonstrated a mutation frequency between 3 and 8%. We also found that mutations at codon 12 of NRAS (NRASG12V and NRASG12D) were significantly associated, for primary myelofibrosis (PMF), with highest DIPSS-plus score categories. This association was then confirmed in 66 additional PMF patients composing a final dataset of 168 PMF showing an NRAS mutation frequency of 4.7%, which was associated with a worse outcome, as defined by the DIPSS plus score