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Deletions and chromosomal translocations involving the 1p32 region, are frequently observed in T cell acute lymphoblastic leukemia (T-ALL). One of the most common genetic changes is the breakage of the TAL1 gene, which was originally described to be involved in the T-ALL carrying the t(1;14)(p32;q11) translocation. Site-specific deletions in the TAL1 gene are reported to occur in 12-26% of T-ALL with apparently normal karyotype. In order to investigate the presence of other subkaryotypic abnormalities involving the 1p32 chromosomal region, where TAL1 gene is mapped, we assessed losses of heterozygosity (LOH) for microsatellite markers, in a series of 22 children with T-ALL. Microsatellite polymorphic markers flanking the TAL1 gene (D1S211, D1S197, D1S200 and D1S220) were analyzed to detect LOH. Eight patients displayed LOH for at least one of the markers, suggesting the existence of hot spot regions at the short arm of chromosome 1. Two out of 11 with no molecular evidences of TAL1 gene involvement, compared to six out of 11 in the group of TAL1 rearranged gene, showed LOH at 1p32. TAL1 gene rearrangements and clonal LOH may represent two independent events, but could be related to the same causes. For the first time this study provides evidences that LOH at 1p32 region, occurs in T-ALL in the same region known to be involved in chromosomal deletions and translocations. LOH mapping may help to define the location of a new putative tumor-suppressor gene implicated in the transformation and progression of children T-ALL. [ABSTRACT FROM AUTHOR]

Introduction: In the context of double-valve surgery for elderly high-risk patients involving both the aortic and mitral valves, a clinically significant problem has been that no clear criteria or surgical strategies have been reported for the selection of mitral valve plasty (MVP) or mitral valve replacement (MVR) for mitral valve disease management during surgical aortic valve replacement (SAVR) to achieve better clinical outcomes. This study investigated valve durability and survival using our surgical strategy for mitral valve disease with concomitant SAVR in elderly patients. Methods: Eighty-six patients aged > 65 years (mean 75 years) who underwent a double-valve procedure for mitral valve surgery with concomitant SAVR from 2010 to 2022 were reviewed. Our surgical strategy for mitral valve disease with concomitant SAVR for the elderly patients was as follows: MVP was selected for patients in whom mitral valve disease was expected to be controlled with simple surgical procedures (n = 47), otherwise MVR was selected (n = 39). Results: The hospital mortality rate was 8% (n = 7). The mean follow-up was 4.9 (0–12.3) years. And the 10-year survival rate was 62%. The 10-year freedom from aortic valve reoperation rate was 95%. No mitral valve reintervention was performed during follow-up. Echocardiographic follow-up demonstrated freedom from at least moderate mitral regurgitation in 86% of cases at 10 years. Conclusion: In double-valve surgery for elderly high-risk patients, appropriate selection of the mitral valve procedure with concomitant SAVR provided better early and long-term survival and valve durability. This surgical strategy may be beneficial in elderly patients with combined aortic and mitral valve disease. [ABSTRACT FROM AUTHOR]

The large penetration of distributed energy resource (DER) into low voltage distribution network (LVDN), especially the rooftop solar photovoltaic system, is a matter of concern today. The number of DER in the LVDN increases quickly as a result of the government's push to adopt renewable energy sources, causing many technical issues. Therefore, estimating the maximum capacity of DER that LVDN can absorb according to its limit is essential. This topic is called Hosting Capacity. Many methods to determine Hosting Capacity have been proposed in recent years, including Deterministic, Stochastic and Optimization. However, with the resolution of uncertain factors about load, location and size of (DGs), Stochastic and Optimization are more prestigious. This article focuses on comparing and evaluating the accuracy and effectiveness of these two methods when testing on an actual LVDN. Finally, by analyzing and comparing the effectiveness, advantage and disadvantage of the two proposed methods, this article helps distribution network operator (DNO) to determine the appropriate method to apply to an actual network. This not only assists DNO in planning long-term distribution network development but also supports the approval of DER connectivity. [ABSTRACT FROM AUTHOR]

Background: Oncologic outcomes after laparoscopic gastrectomy for advanced gastric cancer in the West have been poorly investigated. The aim of the present study was to compare survival outcomes in patients undergoing curative-intent laparoscopic and open gastrectomy for advanced gastric cancer in several centres belonging to the Italian Research Group for Gastric Cancer. Methods: Data of patients operated between 2015 and 2018 were retrospectively analysed. Propensity Score Matching was performed to balance baseline characteristics of patients undergoing laparoscopic and open gastrectomy. The primary endpoint was 3-year overall survival. Secondary endpoints were 3-year disease-free survival and short-term outcomes. Multivariable regression analyses for survival were conducted. Results: Data were retrieved from 20 centres. Of the 717 patients included, 438 patients were correctly matched, 219 per group. The 3-year overall survival was 73.6% and 68.7% in the laparoscopic and open group, respectively (p = 0.40). When compared with open gastrectomy, laparoscopic gastrectomy showed comparable 3-year disease-free survival (62.8%, vs 58.9%, p = 0.40), higher rate of return to intended oncologic treatment (56.9% vs 40.2%, p = 0.001), similar 30-day morbidity/mortality. Prognostic factors for survival were ASA Score ≥ 3, age-adjusted Charlson Comorbidity Index ≥ 5, lymph node ratio ≥ 0.15, p/ypTNM Stage III and return to intended oncologic treatment. Conclusions: Laparoscopic gastrectomy for advanced gastric cancer offers similar rates of survival when compared to open gastrectomy, with higher rates of return to intended oncologic treatment. ASA score, age-adjusted Charlson Comorbidity Index, lymph node ratio, return to intended oncologic treatment and p/ypTNM Stage, but not surgical approach, are prognostic factors for survival. [ABSTRACT FROM AUTHOR]

In aged population, the early and long-term outcomes of coronary revascularization (CABG) added to surgical aortic valve replacement (SAVR) compared to isolated SAVR (i-SAVR) are conflicting. To address this limitation, a meta-analysis comparing the early and late outcomes of SAVR plus CABG with i-SAVR was performed. Electronic databases from January 2000 to November 2021 were screened. Studies reporting early-term and long-term comparison between the two treatments in patients over 75 years were analyzed. The primary endpoints were in-hospital/30-day mortality and overall long-term survival. The pooled odd ratio (OR) and hazard ratio (HR) with 95% confidence interval (CI) were calculated for in-early outcome and long-term survival, respectively. Random-effect model was used in all analyses. Forty-four retrospective observational studies reporting on 74,560 patients (i-SAVR = 36,062; SAVR + CABG = 38,498) were included for comparison. The pooled analysis revealed that i-SAVR was significantly associated with lower rate of early mortality compared to SAVR plus CABG (OR = 0.70, 95% CI 0.66–0.75; p < 0.0001) and with lower incidence of postoperative acute renal failure (OR = 0.65; 95% CI 0.50–0.91; p = 0.02), need for dialysis (OR = 0.65; 95% CI 0.50–0.86; p = 0.002) and prolonged mechanical ventilation (OR = 0.57; 95% CI 0.42–0.77; p < 0.0001). Twenty-two studies reported data of long-term follow-up. No differences were reported between the two groups in long-term survival (HR = 0.95; 95% CI 0.87–1.03; p = 0.23). CABG added to SAVR is associated with worse early outcomes in terms of early mortality, postoperative acute renal failure, and prolonged mechanical ventilation. Long-term survival was comparable between the two treatments. [ABSTRACT FROM AUTHOR]

Background: To investigate the cause of lymphopenia in patients with newly diagnosed COVID-19, we measured [18F]FDG uptake in several tissues, including the ileum, right colon, and caecum at diagnosis and after recovery and correlated these measurements with haematological parameters. Methods: We studied, by [18F]FDG PET/CT, 18 newly diagnosed patients with COVID-19. Regions of interest were drawn over major organs and in the terminal ileum, caecum, and right colon, where the bowel wall was evaluable. Five patients were re-examined after recovery, and three of them also performed a white blood cell scan with 99mTc-HMPAO-WBC on both occasions. Complete blood count was performed on both occasions, and peripheral blood lymphocyte subsets were measured at diagnosis. Data were analysed by a statistician. Results: Patients had moderate severity COVID-19 syndrome. Basal [18F]FDG PET/CT showed focal lung uptake corresponding to hyperdense areas at CT. We also found high spleen, ileal, caecal, and colonic activity as compared to 18 control subjects. At recovery, hypermetabolic tissues tended to normalize, but activity in the caecum remained higher than in controls. Regression analyses showed an inverse correlation between CD4 + lymphocytes and [18F]FDG uptake in the caecum and colon and a direct correlation between CD8 + lymphocytes and [18F]FDG uptake in lungs and bone marrow. WBC scans showed the presence of leukocytes in the caecum and colon that disappeared at recovery. Conclusions: These findings indicate that lymphopenia in COVID-19 patients is associated with large bowel inflammation supporting the hypothesis that CD4 + lymphocytes migrate to peripheral lymphoid tissues in the bowel. [ABSTRACT FROM AUTHOR]

Little is known about the emotional pressures and practical management of daily challenges and, intra and interpersonal demands of raising a child as a parent with a diagnosis of Autistic Spectrum Conditions. The present study utilised a qualitative approach to understand perceptions of females diagnosed on the autistic spectrum of 'being a parent'. Eight semi-structured interviews were analysed using Interpretative Phenomenological Analysis. Benefits and challenges of being a parent were highlighted alongside population-specific skill and characteristics associated with strength and resilience, love, nurture, routine and sensory considerations. Findings identify the need for population-specific specialist parenting support, provide direction for professionals in clinical settings and expand the paucity of research in this area. [ABSTRACT FROM AUTHOR]

Powder bed fusion (PBF) of ceramics is often limited because of the low absorptance of ceramic powders and lack of process understanding. These challenges have been addressed through a co-development of customized ceramic powders and laser process capabilities. The starting powder is made of a mix of pure alumina powder and alumina granules, to which a metal oxide dopant is added to increase absorptance. The performance of different granules and process parameters depends on a large number of influencing factors. In this study, two methods for characterizing and analyzing the PBF process are presented and used to assess which dopant is the most suitable for the process. The first method allows one to analyze the absorptance of the laser during the melting of a single track using an integrating sphere. The second one relies on in-situ video imaging using a high-speed camera and an external laser illumination. The absorption behavior of the laser power during the melting of both single tracks and full layers is proven to be a non-linear and extremely dynamic process. While for a single track, the manganese oxide doped powder delivers higher and more stable absorptance. When a full layer is analyzed, iron oxide-doped powder is leading to higher absorptance and a larger melt pool. Both dopants allow the generation of a stable melt-pool, which would be impossible with granules made of pure alumina. In addition, the present study sheds light on several phenomena related to powder and melt-pool dynamics, such as the change of melt-pool shape and dimension over time and powder denudation effects. [ABSTRACT FROM AUTHOR]

Observational studies suggest that a heart failure (HF) diagnosis carries a poor prognosis in subjects with severe SARS-CoV2 (COVID-19) infection, but it is unknown whether this association reflects direct myocardial damage due to COVID-19 or the consequence of preexisting cardiac defects and related cardiovascular disease (CVD) risk burden. Although the close relation between CVD and COVID-19 outcomes is well established, contrasting data exists about the occurrence of HF complications during COVID-19 infection. Therefore, a specific algorithm focused on diagnostic differentiation in acute patients distinguishing between acute HF and acute respiratory distress syndrome related to COVID-19 is needed. Further, several concerns exist for the management of patients with an uncertain diagnosis and acute dyspnea, the exact relationship existing between COVID-19 and HF. Therefore, the treatment for subjects with both COVID-19 and HF and which criteria may be defined for domiciliary or hospital management, remain poorly defined. Herein, we describe practices to be adopted in order to address these concerns and avoid further virus spread among patients, l and their familiars involved in such patients' care. [ABSTRACT FROM AUTHOR]

The Mefite site in Ansanto Valley is located in the Rocca San Felice municipality (Province of Avellino, Campania Region, Italy), namely in Irpinia: this region was in ancient times inhabited by Hirpini (the where part of the local tribal system). The site is in the same time inserted in a wide rural landscape preservin0067 still today a high grade of naturality. As regards the geological structures, they are to be quoted at least 55 geosites, object of recent research aimed at identifying Geodiversity in Campania Region. Due to its environmental features, the site of Mefite has been known since antiquity as a site of deadly exhalations and place of manifestation of the eponymous goddess: his name should derive from “meudh,” literally “she who is in the middle”, link between the opposing life/death and heaven/earth. Archeological data witness the presence in V cent. b.C. of a cult referred to the goddess named Mephitis, namely the divinity living in the land of the middle between heaven and infernal word. She was worshipped because of her recognized influence on waters, fertility, and rural life. Probably, in the time of Late Roman Empire, decaying the christian rituals took the place of pagan ones. The long period of silence characterizing Middle Ages was interrupted by the numerous information aquired through the notes reported by common travelers and famous people too. As a matter of fact in the nineteenth century and in the first part of twentieth century, the mephitic phenomena related to the site where associated to the ones taking place in the near Phlegrean area. From this issue derives the theory of a volcanic origin of the place. The existing theory linked to mephitic phenomenology in not universally shared, in the same time we can surely exclude any volcanic origin of the matter but considering the evaluation of some geo- and biochemical elements. The carbon dioxide exceptional amount is related to the emission of some “traps” created during the construction of tectonic Apenninic orogenesis; the weak thermalism of the area and the presence of hydrocarbon are eventually compatible with the explanation given. The very place is a sort of natural lab for studying some endemic species able to survive in extreme survival conditions. Aiming at characterizing the importance and the geotouristic value, the site of Mefite has been evaluated following some appropriate criteria. For instance, making a comparison among different local geosite features using the most widely used assessment methods, through this process is evident that the site of Mefite is absolutely provided of the best qualitative elements in term of scientific, panoramical, and relational potentialities. The opinions so collected suggest some specific policies having the purpose of promoting and preserving the area. In conclusion, this study states that the Mefite is a valuable Geoarcheosite in a major area aiming at respecting and enhancing local traditions and customs to stimulate a kind of a sustainable and responsible geotourism. [ABSTRACT FROM AUTHOR]

An abstract of the article "Paroxysmal hemicrania-tic syndrome: a new case report" by I. Maestrini, A. Viganò, G. Di Stefano, A. Truini, G. Cruccu, G. L. Lenzi, and V. Di Piero is presented.

Mixed prototyping technology can be used to represent and simulate the behavior of interactive products at low cost and with great flexibility. This preliminary experimental research intends to verify the suitability of using this technology in the evaluation of usability and user experience of interactive products. Users and experts evaluate the mixed prototype of an image projector with regard to its own usability, and also with respect to its ability to be used to evaluate usability and user experience aspects of the real projector. Users perform tasks on both the real projector and its mixed prototype. In regard to these comparative performance evaluations, time to perform the task and number of errors show a clear positive relationship with the difficulty of the task for both mixed prototype and real projector. In regard to more subjective UX evaluations, the results show to be congruent. However, we realize that emotions assigned to the mixed prototype are influenced by the "fascination" that augmented reality arises in individuals. Experts evaluate the mixed prototype with respect to aspects of the interaction with the product that it is able to simulate, and with respect to the classes of products best suited to be prototyped. They highlighted the possibility of using the technology to evaluate product performance, ergonomics, and operation. In regard to the classes of products to be prototyped, experts' suggestions coincided with the classes of products that have already been used in research: household appliances, information and communication devices, and automotive parts and accessories. [ABSTRACT FROM AUTHOR]

Assessment of the future water resources in the Italian Alps under climate change is required, but the hydrological cycle of the high-altitude catchments therein is poorly studied and little understood. Hydrological monitoring and modeling in the Alps is difficult, given the lack of first hand, site specific data. Here, we present a method to model the hydrological cycle of poorly monitored high-altitude catchments in the Alps, and to project forward water resources availability under climate change. Our method builds on extensive experience recently and includes (i) gathering data of climate, of cryospheric variables, and of hydrological fluxes sparsely available; (ii) robust physically based glacio-hydrological modeling; and (iii) using glacio-hydrological projections from GCM models. We apply the method in the Mallero River, in the central (Retiche) Alps of Italy. The Mallero river covers 321 km2, with altitude between 310 and 4015 m a.s.l., and it has 27 km2 of ice cover. The glaciers included in the catchment underwent large mass loss recently, thus Mallero is largely paradigmatic of the present situation of Alpine rivers. We set up a spatially explicit glacio-hydrological model, describing the cryospheric evolution and the hydrology of the area during a control run CR, from 1981 to 2007. We then gather climate projections until 2100 from three Global Climate Models of the IPCC AR5 under RCP2.6, RCP4.5, and RCP8.5. We project forward flow statistics, flow components (rainfall, snow melt, ice melt), ice cover, and volume for two reference decades, namely 2045-2054 and 2090-2099. We foresee reduction of the ice bodies from − 62 to − 98% in volume (year 2100 vs year 1981), and subsequent large reduction of ice melt contribution to stream flows (from − 61 to − 88%, 2100 vs CR). Snow melt, now covering 47% of the stream flows yearly, would also be largely reduced (from − 19 to − 56%, 2100 vs CR). The stream flows will decrease on average at 2100 (from + 1 to − 25%, with − 7%), with potential for increased flows during fall, and winter, and large decrease in summer. Our results provide a tool for consistent modeling of the cryospheric, and hydrologic behavior, and can be used for further investigation of the high-altitude catchments in the Alps. [ABSTRACT FROM AUTHOR]

Estuaries are productive and ecologically important ecosystems, incorporating environmental drivers from watersheds, rivers, and the coastal ocean. Climate change has potential to modify the physical properties of estuaries, with impacts on resident organisms. However, projections from general circulation models (GCMs) are generally too coarse to resolve important estuarine processes. Here, we statistically downscaled near-surface air temperature and precipitation projections to the scale of the Chesapeake Bay watershed and estuary. These variables were linked to Susquehanna River streamflow using a water balance model and finally to spatially resolved Chesapeake Bay surface temperature and salinity using statistical model trees. The low computational cost of this approach allowed rapid assessment of projected changes from four GCMs spanning a range of potential futures under a high CO2 emission scenario, for four different downscaling methods. Choice of GCM contributed strongly to the spread in projections, but choice of downscaling method was also influential in the warmest models. Models projected a ~2–5.5 °C increase in surface water temperatures in the Chesapeake Bay by the end of the century. Projections of salinity were more uncertain and spatially complex. Models showing increases in winter-spring streamflow generated freshening in the Upper Bay and tributaries, while models with decreased streamflow produced salinity increases. Changes to the Chesapeake Bay environment have implications for fish and invertebrate habitats, as well as migration, spawning phenology, recruitment, and occurrence of pathogens. Our results underline a potentially expanded role of statistical downscaling to complement dynamical approaches in assessing climate change impacts in dynamically challenging estuaries. [ABSTRACT FROM AUTHOR]

Magnetars are neutron stars in which a strong magnetic field is the main energy source. About two dozens of magnetars, plus several candidates, are currently known in our Galaxy and in the Magellanic Clouds. They appear as highly variable X-ray sources and, in some cases, also as radio and/or optical pulsars. Their spin periods (2-12 s) and spin-down rates (∼10-10 s s) indicate external dipole fields of ∼10 G, and there is evidence that even stronger magnetic fields are present inside the star and in non-dipolar magnetospheric components. Here we review the observed properties of the persistent emission from magnetars, discuss the main models proposed to explain the origin of their magnetic field and present recent developments in the study of their evolution and connection with other classes of neutron stars. [ABSTRACT FROM AUTHOR]

This paper presents a systematic framework for design customization of footwear for children and identifies three modules related to shoe styling: shoe surface, shoe bottom, and accessory. A new module, shoe cloth, is created to allow a quick change of shoe appearance. Consumers can specify various design attributes in each module, including color, texture, embroidery, and shape. A prototype design system is implemented using augmented reality and sensing technologies based on the framework. This system consists of novel functions that support customization, design evaluation, and pattern development. The user can virtually put a customized shoe model on his/her foot in a video stream. The proposed framework not only facilitates evaluating products that are highly interactive with users, but also helps engage them in the design process. This work realizes the concept of human-centric design for mass customization. [ABSTRACT FROM AUTHOR]

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Background: Patients with Gitelman syndrome, a hereditary salt-wasting tubulopathy, have loss-of-function mutations in the SLC12A3 gene coding for the thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubule. Since the bulk of filtered phosphate is reabsorbed in the proximal tubule, renal phosphate wasting is considered exceptional in Gitelman syndrome. Methods: We investigated the renal handling of inorganic phosphate in 12 unselected Italian patients affected with Gitelman syndrome (5 females and 7 males, aged 6.0-18 years, median age 12 years) and in 12 healthy subjects matched for gender and age (controls). The diagnosis of Gitelman syndrome among the patients had been made clinically and confirmed by molecular biology studies. Results: The biochemical hallmarks of Gitelman syndrome, namely hypochloremia, hypokalemia, hypomagnesemia, increased urinary excretion of sodium, chloride, potassium and magnesium and reduced urinary excretion of calcium, were present in the 12 patients. In addition, both the plasma inorganic phosphate concentration (median and interquartile range: 1.28 [1.12-1.36] vs. 1.61 [1.51-1.66)] mmol/L) and the maximal tubular reabsorption of inorganic phosphate (1.08 [0.99-1.22] vs. 1.41 [1.38-1.47] mmol/L) were significantly lower ( P < 0.001) in Gitelman patients than in control subjects. Circulating levels of 25-hydroxyvitamin D, intact parathyroid hormone and osteocalcin were similar in patients and controls. Conclusions: The results of our case-control study disclose a hitherto unrecognized tendency towards renal phosphate wasting with mild to moderate hypophosphatemia in Gitelman syndrome. [ABSTRACT FROM AUTHOR]