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PPP2R5D-related neurodevelopmental disorder is characterized by a range of neurodevelopmental and behavioral manifestations. We report the association of early-onset parkinsonism with the PPP2R5D p.E200K mutation. Clinical characterization and exome sequencing were performed on three patients, with postmortem neuropathologic examination for one patient. All patients had mild developmental delay and developed levodopa-responsive parkinsonism between the ages of 25 and 40 years. The PPP2R5D c.598G>A (p.E200K) mutation was identified in all patients. Neuropathologic examination demonstrated uneven, focally severe neuronal loss and gliosis in the substantia nigra pars compacta, without Lewy bodies. Our findings suggest the PPP2R5D p.E200K mutation to be a possible new cause of early-onset parkinsonism. ANN NEUROL 2020;881028-1033.

Revascularization guidelines support routine Heart Team (HT) discussion of appropriate patients. The effect of HT on decision making and clinical outcomes has not been explored. The aim of our study is to investigate the impact of the HT on the mode and delay to revascularization.

We compared data from a prospective cohort of consecutive patients with multivessel coronary artery disease (CAD) referred for HT discussion between 2016 and 2017 (HT group) with a historic control group of patients matched according to clinical and angiographic characteristics treated between 2005 and 2015 (No HT group).

There were 93 patients in each group. The HT group and the No HT groups had a similar rate of ACS as well as cardiovascular risk factors and significant left ventricular (LV) dysfunction. No difference was observed in the mean Society of Thoracic Surgery score (2.5 ± 3 vs 3 ± 3; P = .32) and the mean SYNTAX score was low and similar in both groups (21 ± 6 vs 19 ± 6; P = .59). The treatment recommendations changed greatly, with 63% of patients being referred for coronary artery bypass grafting (CABG) after HT discussion but only 23% in the No HT group (P < .01). HT discussion led to a significant delay to PCI (8 ± 5 vs 1.8 ± 4 days; P = .02), while surgical revascularization times were not affected.

HT discussion in patients with multivessel CAD was associated with an increased referral to CABG but led to a significant delay in revascularization by angioplasty. The impact of these findings on patient satisfaction and outcome should be further investigated.

HT discussion in patients with multivessel CAD was associated with an increased referral to CABG but led to a significant delay in revascularization by angioplasty. The impact of these findings on patient satisfaction and outcome should be further investigated.

Antibiotic resistance in wastewaters reflects the clinical resistome. This study aimed at investigating whether changes in the population size and composition in the popular tourist destination of Zakynthos island are associated with differentiation in the antibiotic resistance of environmental micro-organisms isolated from wastewater.

The resistance profiles of four species (Escherichia coli, Staphylococcus sp., Pseudomonas sp. and Enterococcus sp.) were studied in 124 raw and treated municipal wastewaters from November 2015 to August 2016. Isolates were tested against their susceptibility to several antibiotics of different antimicrobial categories. Data concerning the alteration in the population size and composition, due to the tourist mobility, were collected and logistic regression models were used to examine the relationships between antimicrobial resistance and population changes. The decrease in resistance of E. coli to amoxicillin-clavulanate, of enterococci to norfloxacin and ampicillin, and of pseudomonads to almost all antibiotics tested was associated with population increase due to tourist flows. In contrast, the presence of tourists was linked to an increase in quinupristin-dalfopristin resistant enterococci. Resistance of staphylococci did not change during the tourist period.

Changes in population composition in touristic areas are reflected in antibiotic resistance of environmental bacteria in wastewater.

In touristic areas, where people carrying different resistomes are merged, medication should be adapted accordingly.

In touristic areas, where people carrying different resistomes are merged, medication should be adapted accordingly.Reverse spherification is a common technique used in molecular gastronomy to produce innovative products with an improved texture by shaping a liquid into an edible semisolid sphere that gives a burst in the mouth sensation. In this study, liquid-core hydrogel beads (LHBs) were prepared using Syzygium caryophyllatum fruit pulp adapting reverse-phase molecular gastronomy as a minimal processing technique to promote it as a healthy snack. Three types of hydrogel beads were formulated while considering the stability of LHBs. Long-term hardening of fruit juice in sodium alginate solution and the addition of plasticizer was used as two methods to increase the textural stability of LHBs. Results revealed that the addition of the plasticizer imparted to improve all the physical and textural properties of beads; however, it affects the transparency of the hydrogel membrane as well. Although the plasticizer increased the textural stability of LHBs, prolong inlaying them in it (the plasticizer) contribute to occur adverse consequences on the quality. Hence, the inlaying of LHBs in glycerol for 2 min was selected as the best treatment (HBP1). Since HBP1 had a low hardness (125.00 g) and high resilience (0.21), it imparted a chewing gum-like texture to LHBs. Hence, it (HBP1) can be used as a healthy snack. While HBP1 was capable of retained 90% antioxidant activity of fresh fruit of S. caryophyllatum, total polyphenolic content, 2,2-diphenyl-2-picryl-hydrazyl scavenging activity %, and ferric reducing antioxidant power value of this formulation were 59.50 GAE/g of dried LHBs, 68.96% and 139.69 TE/g of dried LHBs, respectively.

In Germany, a multistep approach has been established to prevent work-related skin diseases (WRSDs).

To evaluate the effect of a secondary individual prevention program (SIP) in metalworkers with WRSD and to compare their characteristics with those of participants of a tertiary individual prevention program (TIP).

In a prospective cohort study, metalworkers with WRSD of the hands participating either in the SIP (n = 114) or in the TIP (n = 83) were recruited. NSC 266046 At baseline and at the respective follow-up 8-12 weeks after the SIP or at dismissal from the TIP (3-4 weeks later), questionnaires were completed and the severity of WRSD was assessed. Saliva samples were collected for assessment of filaggrin (FLG) mutations and an explorative genome-wide association study (GWAS).

Ninety-three SIP patients (81.6%) attended the follow-up. Disease severity was significantly reduced, and knowledge and protective behavior were significantly improved compared to baseline. Significant differences between SIP and TIP patients were found regarding duration and severity of symptoms, work absenteeism, tobacco smoking, and presence of atopic dermatitis, but not regarding FLG mutations and by GWAS.