Search

Wilson's disease (WD) is a biallelic disease-causing variant in the ATP7B gene on chromosome 13q14.3 that results in copper accumulation in many organs, particularly the liver and brain. The phenotypic spectrum is wide and symptoms at onset can be heterogeneous. We describe two Sicilian siblings, a young man and his elder sister, both compound heterozygous for the variants c.1286-2A>G and c.2668G>A (p.Val890Met) in the ATB7B gene. The male patient presented with liver cirrhosis, which quickly progressed to end-stage liver disease (Child-Pugh score = C10), while his sister had moderate steatotic liver disease (SLD). Our findings highlight that SLD may not always be related to obesity in overweight patients, especially when there are other potential risk factors such as a family history of chronic liver disease, or the persistence of high transaminase despite the adoption of adequate dietary and pharmacological intervention. Screening for conditions such as WD could identify patients at risk of developing SLD and avoid delays in diagnosis. Phenotypic variability in WD is considerable; therefore, further studies are needed to identify which WD patients have a greater risk of developing SLD and determine factors that can predict the severity of the disease.

The dysregulation of the β-cell functional mass, which is a reduction in the number of β-cells and their ability to secure adequate insulin secretion, represents a key mechanistic factor leading to the onset of type 2 diabetes (T2D). Obesity is recognised as a leading cause of β-cell loss and dysfunction and a risk factor for T2D. The natural history of β-cell failure in obesity-induced T2D can be divided into three steps: (1) β-cell compensatory hyperplasia and insulin hypersecretion, (2) insulin secretory dysfunction, and (3) loss of β-cell mass. Adipose tissue (AT) secretes many hormones/cytokines (adipokines) and fatty acids that can directly influence β-cell function and viability. As this secretory pattern is altered in obese and diabetic patients, it is expected that the cross-talk between AT and pancreatic β-cells could drive the maintenance of the β-cell integrity under physiological conditions and contribute to the reduction in the β-cell functional mass in a dysmetabolic state. In the current review, we summarise the evidence of the ability of the AT secretome to influence each step of β-cell failure, and attempt to draw a timeline of the alterations in the adipokine secretion pattern in the transition from obesity to T2D that reflects the progressive deterioration of the β-cell functional mass.

Objectives: Following an earthquake that occurred in middle Italy in 2009, the involved territory hosted in 10 years thousands of construction sites. The aim of this study is to assess inhalable, respirable, and respirable crystalline silica exposure of the construction workers involved in the rebuilding activities., Methods: Six construction companies joined the study and hosted the air sampling activities. We identified four work tasks: bricklayer and similar; scaffolder and carpenter; manual demolition; other tasks. We reported 8-h time-weighted concentrations., Results: The "All tasks" geometric mean concentration of inhalable dust was 4.73 mg/m 3 and the higher, TLV exceeding exposure was observed for "Manual demolition workers" (13.92 mg/m 3 , GM). The "All tasks" geometric mean concentration of respirable dust was 0.25 mg/m 3 and no TLV-exceeding exposure (geometric mean values) was observed among the work-related groups. About the respirable crystalline silica dust exposure, the "All tasks" average concentration was 0.004 mg/m 3 . No TLV-exceeding exposure was observed among the whole data sample., Conclusions: The comparison of the results shows that manual demolition workers are exposed to high levels of inhalable dust, exceeding the TLV-TWA (Threshold Limit Values-Time Weighted Average) limit of 10 mg/m 3 . About the respirable dust concentration, none of the analyzed work task dust concentrations exceeded the TLV-TWA limit of 3 mg/m 3 (geometric mean values). Measurements of respirable crystalline silica dust have shown levels below the threshold limit value of 0.025 mg/m 3 . Our findings overall match with the available scientific data., (© 2021 The Authors. Journal of Occupational Health published by John Wiley & Sons Australia, Ltd on behalf of The Japan Society for Occupational Health.)

The aim of this study is to analyze the subjective perception of risks for rural workers in Abruzzo, an area of central Italy. A group of 273 workers were asked to fill in a questionnaire which included, apart from general information, questions relative to six different types of risks normally found in the field of agriculture. The types of risks considered were: falling from a height, manually moving loads, overturning/accident whilst driving an agricultural tractor, noise and vibration, use of pesticides, the risk of being cut/injured. The workers were requested to assess, on a scale of 1 to 3, both the probability of an accident taking place and the consequent damage which could result from each of the risks considered. The assessment of the risks provided by the workers was related to the objective assessment of the risks carried out by the study group, also on the basis of objective data provided by INAIL (Italian insurance company) indexes, to highlight the eventual under/over estimations of risk. Furthermore, the possible correlation was evaluated between having received specific training regarding work safety and the workers perception of the risk. The results showed that approximately 11 percent of the workers do not consider their job as being dangerous; the risk perceived by the workers is higher for accidents that cause an immediate injury compared to those which cause professional illnesses, except the risk deriving from noise/vibrations. A direct correlation was found between the job as being dangerous and having attended courses on accident prevention.