Browsing Isolated Population Data

BACKGROUND: In our studies of genetically isolated populations in a remote mountain area in the center of Sardinia (Italy), we found that 80–85% of the inhabitants of each village belong to a single huge pedigree with families strictly connected to each other through hundreds of loops. Moreover, intermarriages between villages join pedigrees of different villages through links that make family trees even more complicated. Unfortunately, none of the commonly used pedigree drawing tools are able to draw the complete pedigree, whereas it is commonly accepted that the visual representation of families is very important as it helps researchers in identifying clusters of inherited traits and genotypes. We had a representation issue that compels researchers to work with subsets extracted from the overall genealogy, causing a serious loss of information on familiar relationships. To visually explore such complex pedigrees, we developed PedNavigator, a browser for genealogical databases properly suited for genetic studies. RESULTS: The PedNavigator is useful for genealogical research due to its capacity to represent family relations between persons and to make a visual verification of the links during family history reconstruction. As for genetic studies, it is helpful to follow propagation of a specific set of genetic markers (haplotype), or to select people for linkage analysis, showing relations between various branch of a family tree of affected subjects. AVAILABILITY: PedNavigator is an application integrated into a Framework designed to handle data for human genetic studies based on the Oracle platform. To allow the use of PedNavigator also to people not owning the same required informatics infrastructure or systems, we developed PedNavigator Lite with mainly the same features of the integrated one, based on MySQL database server. This version is free for academic users, and it is available for download from our sit

Asymmetric Assembling of Iron Oxide Nanocubes for Improving Magnetic Hyperthermia Performance

Magnetic hyperthermia (MH) based on magnetic nanoparticles (MNPs) is a promising adjuvant therapy for cancer treatment. Particle clustering leading to complex magnetic interactions affects the heat generated by MNPs during MH. The heat efficiencies, theoretically predicted, are still poorly understood because of a lack of control of the fabrication of such clusters with defined geometries and thus their functionality. This study aims to correlate the heating efficiency under MH of individually coated iron oxide nanocubes (IONCs) versus soft colloidal nanoclusters made of small groupings of nanocubes arranged in different geometries. The controlled clustering of alkyl-stabilized IONCs is achieved here during the water transfer procedure by tuning the fraction of the amphiphilic copolymer, poly(styrene-co-maleic anhydride) cumene-terminated, to the nanoparticle surface. It is found that increasing the polymer-to-nanoparticle surface ratio leads to the formation of increasingly large nanoclusters with defined geometries. When compared to the individual nanocubes, we show here that controlled grouping of nanoparticles - so-called "dimers" and "trimers" composed of two and three nanocubes, respectively - increases specific absorption rate (SAR) values, while conversely, forming centrosymmetric clusters having more than four nanocubes leads to lower SAR values. Magnetization measurements and Monte Carlo-based simulations support the observed SAR trend and reveal the importance of the dipolar interaction effect and its dependence on the details of the particle arrangements within the different clusters

Osservazioni geologiche e indagini geofisiche sul carsismo della costa neretina

ItLa piana costiera compresa tra S. Isidoro e Serra Cicora (Nardò, LE) è sede di un sistema carsico attivo ed è caratterizzata da morfologie carsiche, tra cui numerose doline di crollo ("spunnulate"), la cui coalescenza causa sprofondamenti di ragguardevole estensione e potrebbe portare alla formazione di insenature costiere. I fenomeni di dissoluzione chimica preparatori degli eventi di sprofondamento, assumono notevole rilevanza territoriale, dal momento che sono presenti anche in altri tratti delle piane costiere salentine. Di tali processi, oltre all’incidenza nell’evoluzione del paesaggio litorale e delle linee di costa, va considerata anche la pericolosità ambientale, avendo essi interessato nel recente passato infrastrutture viarie e abitative. Le indagini elettromagnetiche con georadar hanno messo in luce cavità ipogee non individuabili dalla superficie. In particolare, le indagini geofisiche hanno prodotto i risultati migliori in aree con minore presenza di materiale conduttivo (terre rosse, depositi palustri e acqua di falda salmastra), dove maggiore è lo spessore dell’areato e, pertanto, minore è l’assorbimento dell’energia elettromagnetica da parte del mezzo.EnThe coastal plain between S. Isidoro and Serra Cicora (Nardò - Lecce), formed by Cretaceous and Pleistocene carbonatic deposits, is seat of an active karstic system. It is characterized by various karstic morphologies, among which there are numerous collapse sinkholes, locally named "spunnulate", that sometimes reach notable extension because of the coalescence of many sinkholes. The accelerated chemical dissolution of the carbonatic deposits, at the origin of speleogenetic phenomena responsible for the collapse, assumes remarkable territorial importance, since the preparing conditions are present also in other parts of the salentine coastal plains. Besides the incidence in the evolution of the coastal landscape and coastlines, the environmental hazard posed by these processes must be considered, since in the recent past they interested various road and housing infrastructures. For a more exhaustive description of the karstic system Ground Penetrating Radar investigations can be very useful; in the specific case such investigations revealed karstic cavities which could not be detected on the base of surface evidences only. Particularly, the geophysical investigations gave the most meaningful results outside the marshy zones, where the presence of conductive material (terre rosse, marshy deposits and brackish water) is lesser, the aerated layer is thicker and, therefore, the electromagnetic energy absorption by the medium is lower and the signal-noise ratio is higher

Risk factors for operated carpal tunnel syndrome: a multicenter population-based case-control study

Background. Carpal tunnel syndrome (CTS) is a socially and economically relevant disease caused by compression or entrapment of the median nerve within the carpal tunnel. This population-based case-control study aims to investigate occupational/non-occupational risk factors for surgically treated CTS. Methods. Cases (n = 220) aged 18-65 years were randomly drawn from 13 administrative databases of citizens who were surgically treated with carpal tunnel release during 2001. Controls (n = 356) were randomly sampled from National Health Service registry records and were frequency matched by age-gender-specific CTS hospitalization rates. Results. At multivariate analysis, risk factors were blue-collar/housewife status, BMI ≥ 30 kg/m2, sibling history of CTS and coexistence of trigger finger. Being relatively tall (cut-offs based on tertiles: women ≥165 cm; men ≥175 cm) was associated with lower risk. Blue-collar work was a moderate/strong risk factor in both sexes. Raised risks were apparent for combinations of biomechanical risk factors that included frequent repetitivity and sustained force. Conclusion. This study strongly underlines the relevance of biomechanical exposures in both non-industrial and industrial work as risk factors for surgically treated CTS

Acute Delta Hepatitis in Italy spanning three decades (1991–2019): Evidence for the effectiveness of the hepatitis B vaccination campaign

Updated incidence data of acute Delta virus hepatitis (HDV) are lacking worldwide. Our aim was to evaluate incidence of and risk factors for acute HDV in Italy after the introduction of the compulsory vaccination against hepatitis B virus (HBV) in 1991. Data were obtained from the National Surveillance System of acute viral hepatitis (SEIEVA). Independent predictors of HDV were assessed by logistic-regression analysis. The incidence of acute HDV per 1-million population declined from 3.2 cases in 1987 to 0.04 in 2019, parallel to that of acute HBV per 100,000 from 10.0 to 0.39 cases during the same period. The median age of cases increased from 27 years in the decade 1991-1999 to 44 years in the decade 2010-2019 (p < .001). Over the same period, the male/female ratio decreased from 3.8 to 2.1, the proportion of coinfections increased from 55% to 75% (p = .003) and that of HBsAg positive acute hepatitis tested for by IgM anti-HDV linearly decreased from 50.1% to 34.1% (p < .001). People born abroad accounted for 24.6% of cases in 2004-2010 and 32.1% in 2011-2019. In the period 2010-2019, risky sexual behaviour (O.R. 4.2; 95%CI: 1.4-12.8) was the sole independent predictor of acute HDV; conversely intravenous drug use was no longer associated (O.R. 1.25; 95%CI: 0.15-10.22) with this. In conclusion, HBV vaccination was an effective measure to control acute HDV. Intravenous drug use is no longer an efficient mode of HDV spread. Testing for IgM-anti HDV is a grey area requiring alert. Acute HDV in foreigners should be monitored in the years to come

Pure Membranous Lupus Nephritis: Description of a Cohort of 150 Patients and Review of the Literature

Objectives The course and long-term outcome of pure membranous lupus nephritis (MLN) are little understood. The aims of this study are to evaluate the clinical features, course, outcome and prognostic indicators in pure MLN and to determine the impact of ethnicity and the type of health insurance on the course and prognosis of pure MLN. Methods We conducted a retrospective review of medical records of 150 patients with pure MLN from Spain and the USA. Results Mean age was 34.2±12.5 and 80% were women. Sixty-eight percent of patients had nephrotic syndrome at diagnosis. The average serum creatinine was 0.98±0.78mg/dl. Six percent of patients died and 5.3% developed end-stage renal disease (ESRD). ESRD was predicted by male sex, hypertension, dyslipidemia, high basal 24h-proteinuria, high basal serum creatinine and a low basal creatinine clearance. Age, cardiac insufficiency, peripheral artheriopathy, hemodialysis and not having received mycophenolate mofetil or antimalarials for MLN predicted death. Conclusions Pure MLN frequently presents with nephrotic syndrome, high proteinuria and normal serum creatinine. Its prognosis is favourable in maintaining renal function although proteinuria usually persists over time. Baseline cardiovascular disease and not having a health insurance are related with poor prognosis

Pure Membranous Lupus Nephritis: Description of a Cohort of 150 Patients and Review of the Literature

Objectives The course and long-term outcome of pure membranous lupus nephritis (MLN) are little understood. The aims of this study are to evaluate the clinical features, course, outcome and prognostic indicators in pure MLN and to determine the impact of ethnicity and the type of health insurance on the course and prognosis of pure MLN. Methods We conducted a retrospective review of medical records of 150 patients with pure MLN from Spain and the USA. Results Mean age was 34.2±12.5 and 80% were women. Sixty-eight percent of patients had nephrotic syndrome at diagnosis. The average serum creatinine was 0.98±0.78mg/dl. Six percent of patients died and 5.3% developed end-stage renal disease (ESRD). ESRD was predicted by male sex, hypertension, dyslipidemia, high basal 24h-proteinuria, high basal serum creatinine and a low basal creatinine clearance. Age, cardiac insufficiency, peripheral artheriopathy, hemodialysis and not having received mycophenolate mofetil or antimalarials for MLN predicted death. Conclusions Pure MLN frequently presents with nephrotic syndrome, high proteinuria and normal serum creatinine. Its prognosis is favourable in maintaining renal function although proteinuria usually persists over time. Baseline cardiovascular disease and not having a health insurance are related with poor prognosis

Valutazione del rischio biomeccanico in due caseifici industriali con differente grado di meccanizzazione

Risks of biomechanical overload of the upper limbs and of altered posture are not well investigated in dairy industry. This study carries out an evaluation of ergonomic and postural risk in two cheese factories in North Sardinia, characterized by a different level of automation, in order to point out at the more dangerous activities for biomechanical overload and to check possible improvements determined by mechanization. Ergonomic analysis has been performed by using NIOSH and OSHA check-lists, and then using the Strain Index method for repetitive movements. Results show that mechanization has a great importance in reducting ergonomic risk, mainly in the salting phase, where SI was lowered from 40.5 to 4.5, and in the cheese shaping (SI 9 vs. 36). Some simple ergonomic solutions and preventive measures have been suggested. Il rischio di patologie da sovraccarico biomeccanico dell’arto superiore e da alterata postura risulta poco indagato nel comparto dell’industria lattiero-casearia. Con il presente studio si è operata una valutazione del rischio ergonomico e posturale per gli addetti alla produzione del Pecorino Romano in due caseifici industriali del Nord Sardegna, caratterizzati da differenti livelli di automazione, al fine di individuare le operazioni che possono comportare eccessivo carico osteo-muscolare, e di quantificare i possibili miglioramenti apportati dalla meccanizzazione delle operazioni più gravose. L’analisi ergonomica è stata condotta con l’utilizzo preliminaredelle checklist NIOSH ed OSHA, ed in seguito con il metodo di Garg, che consente di definire uno Strain Index per i movimenti ripetitivi; il ciclo produttivo è stato scomposto in fasi, alcune delle quali simili nei due casi esaminati, ed altre a diverso grado di automazione. Si è constatato il notevole apporto della meccanizzazione nel ridurre il rischio lavorativo, in particolare nelle fasi di salatura, nella quale dopo la meccanizzazione il rischio si riduceva ad un decimo (Strain Index 40,5 contro 4,5) e di formatura (Strain Index 36 contro 9). Sono stati formulati alcuni suggerimenti per l’implementazione di soluzioni ergonomiche

Nanoscale Transformations in Covellite (CuS) Nanocrystals in the Presence of Divalent Metal Cations in a Mild Reducing Environment

We studied the structural and compositional transformations of colloidal covellite (CuS) nanocrystals (and of djurleite (Cu1.94S) nanocrystals as a control) when exposed to divalent cations, as Cd2+ and Hg2+, at room temperature in organic solvents. All the experiments were run in the absence of phosphines, which are a necessary ingredient for cation exchange reactions involving copper chalcogenides, as they strongly bind to the expelled Cu+ ions. Under these experimental conditions, no remarkable reactivity was indeed seen for both CuS and Cu1.94S nanocrystals. On the other hand, in the covellite structure 2/3 of sulfur atoms form covalent S–S bonds. This peculiarity suggests that the combined presence of electron donors and of foreign metal cations can trigger the entry of both electrons and cations in the covellite lattice, causing reorganization of the anion framework due to the rupture of the S–S bonds. In Cu1.94S, which lacks S–S bonds, this mechanism should not be accessible. This hypothesis was proven by the experimental evidence that adding ascorbic acid increased the fraction of metal ions incorporated in the covellite nanocrystals, while it had no noticeable effect on the Cu1.94S ones. Once inside the covellite particles, Cd2+ and Hg2+ cations engaged in exchange reactions, pushing the expelled Cu+ ions toward the not-yet exchanged regions in the same particles, or out to the solution, from where they could be recaptured by other covellite nanoparticles/domains. Because no good solvating agent for Cu ions was present in solution, they essentially remained in the nanocrystals.ISSN:0897-475