Genetic variants associated with gastrointestinal symptoms in Fabry disease.

Gastrointestinal symptoms (GIS) are often among the earliest presenting events in Fabry disease (FD), an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A. Despite recent advances in clinical and molecular characterization of FD, the pathophysiology of the GIS is still poorly understood. To shed light either on differential clinical presentation or on intervariability of GIS in FD, we genotyped 1936 genetic markers across 231 genes that encode for drug-metabolizing enzymes and drug transport proteins in 49 FD patients, using the DMET Plus platform. All nine single nucleotide polymorphisms (SNPs) mapped within four genes showed statistically significant differences in genotype frequencies between FD patients who experienced GIS and patients without GIS: ABCB11 (odd ratio (OR) = 18.07, P = 0,0019; OR = 8.21, P = 0,0083; OR=8.21, P = 0,0083; OR = 8.21, P = 0,0083),SLCO1B1 (OR = 9.23, P = 0,0065; OR = 5.08, P = 0,0289; OR = 8.21, P = 0,0083), NR1I3 (OR = 5.40, P = 0,0191) and ABCC5 (OR = 14.44, P = 0,0060). This is the first study that investigates the relationships between genetic heterogeneity in drug absorption, distribution, metabolism and excretion (ADME) related genes and GIS in FD. Our findings provide a novel genetic variant framework which warrants further investigation for precision medicine in FD

Intraperitoneal drain placement and outcomes after elective colorectal surgery: international matched, prospective, cohort study

Despite current guidelines, intraperitoneal drain placement after elective colorectal surgery remains widespread. Drains were not associated with earlier detection of intraperitoneal collections, but were associated with prolonged hospital stay and increased risk of surgical-site infections.Background Many surgeons routinely place intraperitoneal drains after elective colorectal surgery. However, enhanced recovery after surgery guidelines recommend against their routine use owing to a lack of clear clinical benefit. This study aimed to describe international variation in intraperitoneal drain placement and the safety of this practice. Methods COMPASS (COMPlicAted intra-abdominal collectionS after colorectal Surgery) was a prospective, international, cohort study which enrolled consecutive adults undergoing elective colorectal surgery (February to March 2020). The primary outcome was the rate of intraperitoneal drain placement. Secondary outcomes included: rate and time to diagnosis of postoperative intraperitoneal collections; rate of surgical site infections (SSIs); time to discharge; and 30-day major postoperative complications (Clavien-Dindo grade at least III). After propensity score matching, multivariable logistic regression and Cox proportional hazards regression were used to estimate the independent association of the secondary outcomes with drain placement. Results Overall, 1805 patients from 22 countries were included (798 women, 44.2 per cent; median age 67.0 years). The drain insertion rate was 51.9 per cent (937 patients). After matching, drains were not associated with reduced rates (odds ratio (OR) 1.33, 95 per cent c.i. 0.79 to 2.23; P = 0.287) or earlier detection (hazard ratio (HR) 0.87, 0.33 to 2.31; P = 0.780) of collections. Although not associated with worse major postoperative complications (OR 1.09, 0.68 to 1.75; P = 0.709), drains were associated with delayed hospital discharge (HR 0.58, 0.52 to 0.66; P < 0.001) and an increased risk of SSIs (OR 2.47, 1.50 to 4.05; P < 0.001). Conclusion Intraperitoneal drain placement after elective colorectal surgery is not associated with earlier detection of postoperative collections, but prolongs hospital stay and increases SSI risk

ISO 14001 certification: benefits, costs and expectations for organizations

In the globalized market, the certification of Environmental Management Systems (EMS), according to ISO 14001 standard, introduced about 20 years ago and reviewed in 2015, is becoming increasingly strategic. In the last decade, the implementation of the EMSs was widely "metabolized" by organizations, because in this certification scheme, the decision-maker recognizes, in the face of significant economic and organizational efforts, the opportunity to enjoy significant benefits from a critical success factors variety. All over the world, the number of certified organizations has grown steadily. However, many organizations still tend to use the tool just because they are interested in grasping some "opportunities" (simplifications in permits, financial and banking incentives). Therefore, in some cases, there is a high risk that the certification may have the sole aim of improving the company's image, so-called "Greenwashing:' while in other cases, the many changes required for the proper implementation of the certification create the belief that such a system is "much paperwork and few benefits". In this work, we present the results of a survey of organizations certified with ISO 14001:2004 in the province of Foggia (Italy) to: - deepen the elements for organizations represent the "utility" and "difficulties" in the implementation of the EMS; - assess the level of ability of organizations to quantify both the "costs" incurred to achieve and maintain the EMS and the economic "benefits'; organizational and environmental generated from its implementation, and the related time to achieve them; - understand the prospects of the organizations about the commitment to continue to bring additional tools for the continuous improvement of environmental performance

Risk Management: a Proposal for the Practice of the "New" ISO14001:2015

Over twenty years of history of standardization of environmental management systems (EMS) have not been enough to slow the worsening of environmental problems. The same 2004 revision of ISO 14001 has failed to grasp the urgency of the necessary changes, so that certified organizations could make a meaningful contribution to limit their environmental impacts. Instead, this need is clearly highlighted by the 2015 version of the same standard, in which the emphasis is placed firmly on the "environmental protection", as opposed to the previous approach that targeted the "pollution prevention". This new approach takes the form in the adoption of three key concepts that characterize the implementation of the new EMS: to operate in the "Life Cycle Perspective", to analyse the "context" of the organization, to integrate in EMS of the "risks and opportunities" to the environment and to the organization. The objective of this paper is to understand how much some highlights of risk management introduced by 15014001:2015 were already perceived as "important" by organizations certified in the previous version of the stan_dard. The study analyzes the resull<; of a survey conducted by administering a questionnaire to all the ISO 14001:2004 certified organizations of the province of Foggia (Apulia region, Italy). The analysis was carried out using a consolidated multi-criteria methodology, called "Analytic Hierarchy Process" (AHP). The survey results show that aspects closely related to the "risk management" are generally rated as minor, with the exception of "substitution of materials harmful to the environment with other more environmentally friendly". It should be emphasized that the resull<; are relevant to the type of companies surveyed. Therefore, the AHP, allowing all the stakeholders to assess the degree of understanding of the elements of risk management, if properly used, could better guide the "decision-makers" in strategic decision-making aimed at "managing" the identified risks