69 research outputs found

    Economic Burden of Denatured Alcohol-Induced Burns: A 20-Year Retrospective Study

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    : Burn care has rapidly improved over the past decades, but health innovations are expensive. We present the first study focusing on the economic burden of exclusive denatured alcohol-induced burns. The goal of this study was to determine costs for the public health system due to inpatients' burn care because of these specific burns. Moreover, we aimed to observe the incidence of methylated spirit-related burns in the past 20 years. We performed an observational retrospective study in our burn unit including all patients with a denatured alcohol-related burn injury from 1 January 2001 to 31 December 2020. A total of 503 patients with a mean burn size of 24% were hospitalized; the mean annual total costs per patient was €43,879, varying from €31,518 to €63,274.00€; the total costs for denatured alcohol-related burns during the period 2001-2020 was €21,145,076. We noted an increasing incidence of denatured alcohol-related burns and related costs over the years, especially in the last decade. Our results highlight that burns by methylated spirits are still a real and expanding problem. Therefore, authorities should focus on sales rules, characteristics of the containers, and education of people who misuse denatured alcohol, based on historical habits of use. To reduce the socioeconomic costs of burns, future intervention strategies and studies from the dermatology community and burn specialists should focus on prevention programs and prompt wound healing to shorten the length of hospital stay, enable quick return to work, and improve the outcomes of patients with burns

    Glycosylation as a Main Regulator of Growth and Death Factor Receptors Signaling

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    Glycosylation is a very frequent and functionally important post-translational protein modification that undergoes profound changes in cancer. Growth and death factor receptors and plasma membrane glycoproteins, which upon activation by extracellular ligands trigger a signal transduction cascade, are targets of several molecular anti-cancer drugs. In this review, we provide a thorough picture of the mechanisms bywhich glycosylation affects the activity of growth and death factor receptors in normal and pathological conditions. Glycosylation affects receptor activity through three non-mutually exclusive basic mechanisms: (1) by directly regulating intracellular transport, ligand binding, oligomerization and signaling of receptors; (2) through the binding of receptor carbohydrate structures to galectins, forming a lattice thatregulates receptor turnover on the plasma membrane; and (3) by receptor interaction with gangliosides inside membrane microdomains. Some carbohydrate chains, for example core fucose and \u3b21,6-branching, exert a stimulatory effect on all receptors, while other structures exert opposite effects on different receptors or in different cellular contexts. In light of the crucial role played by glycosylation in the regulation of receptor activity, the development of next-generation drugs targeting glyco-epitopes of growth factor receptors should be considered a therapeutically interesting goal

    Infantile cortical hyperostosis and COL1A1 mutation in four generations

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    Infantile cortical hyperostosis (ICH, OMIM 114000) is a rare familial disorder which affects infants. It spontaneously heals in the first years of life. The disease is characterized by regressive subperiosteal hyperosteogenesis mainly affecting long bones, mandible, clavicles, and ribs which are remarkably swollen and deformed on X-rays. But it is also important to take into consideration the autosomal dominant pattern of inheritance to detect it. In 2005 Gensure et al. detected 3040C→T mutation in COL1A1 gene in three unrelated ICH families. Four generations of patients belonging to the same family were examined in our study. Molecular testing has now disclosed a pathogenic mutation in nine of them. The patients spontaneously recovered. Although our paper shows a distinct correlation between R836C mutation and ICH, there is a certain interindividual and intra-familial variability

    Mediator regulates non-coding RNA transcription at fission yeast centromeres

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    BACKGROUND: In fission yeast, centromeric heterochromatin is necessary for the fidelity of chromosome segregation. Propagation of heterochromatin in dividing cells requires RNA interference (RNAi) and transcription of centromeric repeats by RNA polymerase II during the S phase of the cell cycle. RESULTS: We found that the Med8-Med18-Med20 submodule of the Mediator complex is required for the transcriptional regulation of native centromeric dh and dg repeats and for the silencing of reporter genes inserted in centromeric heterochromatin. Mutations in the Med8-Med18-Med20 submodule did not alter Mediator occupancy at centromeres; however, they led to an increased recruitment of RNA polymerase II to centromeres and reduced levels of centromeric H3K9 methylation accounting for the centromeric desilencing. Further, we observed that Med18 and Med20 were required for efficient processing of dh transcripts into siRNA. Consistent with defects in centromeric heterochromatin, cells lacking Med18 or Med20 displayed elevated rates of mitotic chromosome loss. CONCLUSIONS: Our data demonstrate a role for the Med8-Med18-Med20 Mediator submodule in the regulation of non-coding RNA transcription at Schizosaccharomyces pombe centromeres. In wild-type cells this submodule limits RNA polymerase II access to the heterochromatic DNA of the centromeres. Additionally, the submodule may act as an assembly platform for the RNAi machinery or regulate the activity of the RNAi pathway. Consequently, Med8-Med18-Med20 is required for silencing of centromeres and proper mitotic chromosome segregation

    The Best Management of Portal Neoplastic Thrombosis in Hepatocellular Carcinoma

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    Hepatocellular carcinoma (HCC) is the fifth commonest cancer worldwide. Vascular invasion of the portal vein is one of the most important prognostic factors for survival in HCC patients and the prognosis is generally poor. The optimal treatment for patients with HCC and portal vein tumour thrombus (PVTT) remains controversial. Although many therapeutic options have been proposed, surgical resection is the only hope of cure for such patients.We present the case of a 74-year-old man diagnosed with a single HCC nodule with portal thrombosis in the right hepatic lobe in the setting of HCV-related liver cirrhosis. After a first approach with a loco-regional treatment not tolerated by the patient, a right hepatectomy proved the best option. One year later the patient is still free from disease

    Floral scent evaluation of segregating lines of Alstroemeria caryophyllaea

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    Floral scent plays an important role in attracting and guiding pollinators and is composed of a bouquet of volatile organic compounds (VOCs). Alstroemeria is a commercially important cut flower, however breeding efforts have focussed on flower colour and size rather than scent. Recently analysis of two scented cultivars derived from the scented Alstroemeria caryophyllaea revealed a surprising divergence in VOC profiles. Here 13 scented lines of A. caryophyllaea derived from selfing were characterized including morphology, evaluation of the floral scent through GC–MS and sensorial analysis. Leaf shape, stem length, flower size, shape, colouration and productivity all varied between lines. Sensorial analyses indicated that two lines (C013 and C017) were most highly rated for their appearance and C017 was also scored highest for its scent contrasting with C004 which scored lowest. Analyses of scent bouquets from six of the lines revealed 23 terpenoid compounds. All lines showed the same most abundant compound putatively identified as β-trans-ocimene, and three further compounds were discriminatory amongst the lines following PCA. Genomic organization of AlstroTPS, a previously identified myrcene synthase, showed substantial polymorphism between lines. The multifactorial characterization performed in this study showed differences among the lines confirming parental heterozygosity

    Data monitoring roadmap. The experience of the Italian Multiple Sclerosis and Related Disorders Register

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    Introduction Over the years, disease registers have been increasingly considered a source of reliable and valuable population studies. However, the validity and reliability of data from registers may be limited by missing data, selection bias or data quality not adequately evaluated or checked.This study reports the analysis of the consistency and completeness of the data in the Italian Multiple Sclerosis and Related Disorders Register.MethodsThe Register collects, through a standardized Web-based Application, unique patients.Data are exported bimonthly and evaluated to assess the updating and completeness, and to check the quality and consistency. Eight clinical indicators are evaluated.ResultsThe Register counts 77,628 patients registered by 126 centres. The number of centres has increased over time, as their capacity to collect patients.The percentages of updated patients (with at least one visit in the last 24 months) have increased from 33% (enrolment period 2000-2015) to 60% (enrolment period 2016-2022). In the cohort of patients registered after 2016, there were >= 75% updated patients in 30% of the small centres (33), in 9% of the medium centres (11), and in all the large centres (2).Clinical indicators show significant improvement for the active patients, expanded disability status scale every 6 months or once every 12 months, visits every 6 months, first visit within 1 year and MRI every 12 months.ConclusionsData from disease registers provide guidance for evidence-based health policies and research, so methods and strategies ensuring their quality and reliability are crucial and have several potential applications

    Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector

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    A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements

    Association of kidney disease measures with risk of renal function worsening in patients with type 1 diabetes

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    Background: Albuminuria has been classically considered a marker of kidney damage progression in diabetic patients and it is routinely assessed to monitor kidney function. However, the role of a mild GFR reduction on the development of stage 653 CKD has been less explored in type 1 diabetes mellitus (T1DM) patients. Aim of the present study was to evaluate the prognostic role of kidney disease measures, namely albuminuria and reduced GFR, on the development of stage 653 CKD in a large cohort of patients affected by T1DM. Methods: A total of 4284 patients affected by T1DM followed-up at 76 diabetes centers participating to the Italian Association of Clinical Diabetologists (Associazione Medici Diabetologi, AMD) initiative constitutes the study population. Urinary albumin excretion (ACR) and estimated GFR (eGFR) were retrieved and analyzed. The incidence of stage 653 CKD (eGFR < 60 mL/min/1.73 m2) or eGFR reduction > 30% from baseline was evaluated. Results: The mean estimated GFR was 98 \ub1 17 mL/min/1.73m2 and the proportion of patients with albuminuria was 15.3% (n = 654) at baseline. About 8% (n = 337) of patients developed one of the two renal endpoints during the 4-year follow-up period. Age, albuminuria (micro or macro) and baseline eGFR < 90 ml/min/m2 were independent risk factors for stage 653 CKD and renal function worsening. When compared to patients with eGFR > 90 ml/min/1.73m2 and normoalbuminuria, those with albuminuria at baseline had a 1.69 greater risk of reaching stage 3 CKD, while patients with mild eGFR reduction (i.e. eGFR between 90 and 60 mL/min/1.73 m2) show a 3.81 greater risk that rose to 8.24 for those patients with albuminuria and mild eGFR reduction at baseline. Conclusions: Albuminuria and eGFR reduction represent independent risk factors for incident stage 653 CKD in T1DM patients. The simultaneous occurrence of reduced eGFR and albuminuria have a synergistic effect on renal function worsening
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