Identification of inversion domains in KTiOPO4 via resonant X-ray diffraction

A novel method is presented for the identification of the absolute crystallographic structure in multi-domain polar materials such as ferroelectric KTiOPO4. Resonant (or `anomalous') X-ray diffraction spectra collected across the absorption K edge of Ti (4.966 keV) on a single Bragg reflection demonstrate a huge intensity ratio above and below the edge, providing a polar domain contrast of ~270. This allows one to map the spatial domain distribution in a periodically inverted sample, with a resolution of ~1 µm achieved with a microfocused beam. This non-contact, non-destructive technique is well suited for samples of large dimensions (in contrast with traditional resonant X-ray methods based on diffraction from Friedel pairs), and its potential is particularly relevant in the context of physical phenomena connected with an absence of inversion symmetry, which require characterization of the underlying absolute atomic structure (such as in the case of magnetoelectric coupling and multiferroics)

Electric field control of the magnetic chiralities in ferroaxial multiferroic RbFe(MoO4)2

The coupling of magnetic chiralities to the ferroelectric polarisation in multiferroic RbFe(MoO$_4$)$_2$ is investigated by neutron spherical polarimetry. Because of the axiality of the crystal structure below $T_\textrm{c}$ = 190 K, helicity and triangular chirality are symmetric-exchange coupled, explaining the onset of the ferroelectricity in this proper-screw magnetic structure - a mechanism that can be generalised to other systems with "ferroaxial" distortions in the crystal structure. With an applied electric field we demonstrate control of the chiralities in both structural domains simultaneously.Comment: 5 pages, 4 figure

Very early onset of ATTRE89Q amyloidosis in a homozygous patient

Case Presentarion: Hereditary transthyretin amyloidosis is a progressive, fatal disease that generally involves the peripheral nervous system, the autonomic nervous system, and the heart. It is autosomal dominant with different penetrance depending on the mutation and the genetic background. Many other missense mutations of the TTR gene may cause the disease. Being an overall rare disease is very rare to observe the condition of homozygosity. In particular, cases of homozygosity have been described in patients with ATTRV30M and ATTRV122I amyloidosis. In the former, the phenotype does not seem to be aggravated, having an age of onset and disease course that does not appear to differ from those of heterozygotes, while in the latter, the onset appears to be earlier. Conclusion: We report the first case of ATTRE89Q amyloidosis in a patient that was homozygous for the E89Q mutation in the TTR gene. The clinical phenotype resulted in the earlier disease onset reported in this form of amyloidosis, suggesting that the homozygous condition may be prognostically negative

Rare among rare: phenotypes of uncommon CMT genotypes

(1) Background: Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited chronic motor and sensory polyneuropathy. Over 100 CMT causative genes have been identified. Previous reports found PMP22, GJB1, MPZ, and MFN2 as the most frequently involved genes. Other genes, such as BSCL2, MORC2, HINT1, LITAF, GARS, and autosomal dominant GDAP1 are responsible for only a minority of CMT cases. (2) Methods: we present here our records of CMT patients harboring a mutation in one of these rare genes (BSCL2, MORC2, HINT1, LITAF, GARS, autosomal dominant GDAP1). We studied 17 patients from 8 unrelated families. All subjects underwent neurologic evaluation and genetic testing by next-generation sequencing on an Ion Torrent PGM (Thermo Fischer) with a 44-gene custom panel. (3) Results: the following variants were found: BSCL2 c.263A > G p.Asn88Ser (eight subjects), MORC2 c.1503A > T p.Gln501His (one subject), HINT1 c.110G > C p.Arg37Pro (one subject), LITAF c.404C > G p.Pro135Arg (two subjects), GARS c.1660G > A p.Asp554Asn (three subjects), GDAP1 c.374G > A p.Arg125Gln (two subjects). (4) Expanding the spectrum of CMT phenotypes is of high relevance, especially for less common variants that have a higher risk of remaining undiagnosed. The necessity of reaching a genetic definition for most patients is great, potentially making them eligible for future experimentations

Acute kidney injury and chronic kidney disease after liver transplant: A retrospective observational study.

BACKGROUND AND RATIONALE Chronic kidney disease remains an important risk factor for morbidity and mortality among LT recipients, but its exact incidence and risk factors are still unclear. MATERIAL AND METHODS We carried out a retrospective cohort study of consecutive adults who underwent liver transplant (January 2009-December 2018) and were followed (at least 6 months) at our institution. CKD was defined following the Kidney Disease: Improving Global Outcomes (KDIGO) 2012 Clinical Practice Guidelines. Long-term kidney function was classified into 4 groups: no CKD (eGFR, ≥60mL/min/1.73m2), mild CKD (eGFR, 30-59mL/min/1.73m2), severe CKD (eGFR, 15-29mL/min/1.73m2), and end-stage renal disease (ESRD). RESULTS We enrolled 410 patients followed for 53.2±32.6 months. 39 had CKD at baseline, and 95 developed de novo CKD over the observation period. There were 184 (44.9%) anti-HCV positive, 47 (11.5%) HBsAg positive, and 33 (8.1%) HBV/HDV positive recipients. Recipient risk factors for baseline CKD were advanced age (P=0.044), raised levels of serum uric acid (P<0.0001), and insulin dependent DM (P=0.0034). Early post-transplant AKI was common (n=95); logistic regression analysis found that baseline serum creatinine was an independent predictor of early post-LT AKI (P=0.0154). According to our Cox proportional hazards model, recipient risk factors for de novo CKD included aging (P<0.0001), early post-transplant AKI (P=0.007), and baseline serum creatinine (P=0.0002). At the end of follow-up, there were 116 LT recipients with CKD - 109 (93.9%) and 7 (6.1%) had stage 3 and advanced CKD, respectively. Only two of them are undergoing long-term dialysis. CONCLUSION The incidence of CKD was high in our cohort of LT recipients, but only a slight decline in kidney function over time was recorded. Prevention of post-transplant AKI will improve kidney function in the long run. We need more studies to analyze the function of kidneys among LT recipients over extended follow-ups and their impact on mortality

RECOVEU Policy and Practice Review: Work Package 3 - Establishing context. Grundtvig Multilateral - EU Lifelong Learning Programme. Project Number: 538955-LLP-1-2013-1-UK-GRUNDTVIG-GMP

A review of the policy relating to drug addiction and treatment in the UK, Ireland, Cyprus, Romania and Italy. This document provides the contextual background for the RECOVEU project : A participative approach to curriculum development for adults in addiction recovery across the European Union. The project has brought together partners from the UK, Ireland, Cyprus, Romania and Italy with the aim of developing access to learning resources for people in addiction recover. The review draws on existing data (for example, from the European Monitoring Centre for Drugs and Drug Addiction) and the experiential knowledge of the five partner organisations working in the field of addiction

Work Package 4 - Focus Group Overview. Grundtvig Multilateral - EU Lifelong Learning Programme. Project Number: 538955-LLP-1-2013-1-UK-GRUNDTVIG-GMP

During the first year of the RECOVEU project, the Consortium collected data regarding the policy and practice in the field of addiction treatment, education and social reintegration in all five countries.One of the major issues confronting policy makers and practitioners in the field of addiction and recovery is the lack of specific data concerning the access of adults in recovery to learning resources that enable them to recover and re‐integrate into society. Consulting with both adults in recovery and service providers will support awareness of the issues prevalent in recovering addicts’ lives and lead to the development of adult education which is responsive to the specific barriers this may raise. This will ensure that the adult education curriculum developed during the project will meet the needs of people in recovery, thereby increasing the potential for successful engagement and retention. Work Package 4 – Focus Group Phase has supported an understanding of the part played by adult education in an individual’s recovery process and provides a way in which people in recovery could be supported to engage in adult education opportunities. Each of the five partners delivered three to five focus groups, either with service users or service providers. The total number of participants was 92 (44 service users and 48 service providers), with a total number of 20 groups delivered across all partners. This review outlines the key findings from these focus groups

Analysis of the autophagic flux in astrocytes intoxicated by trimethyltin

Autophagy is an intracellular degradation process that controls the quality of the cytoplasm by eliminating protein aggregates and damaged organelles. In addition to its vital homeostatic role, this degradation pathway is involved in various human disorders, including neurodegenerative diseases. Our previous data show that in hippocampal and cortical neurons the neurotoxic compound trimethyltin (TMT) activates the autophagic pathway (Fabrizi et al., 2012). Recently we extended our analysis to astrocytes, the main population of glia of the central nervous system. As already observed in neurons, in astrocytes autophagy is rapidly induced after TMT administration. LC3-II which is a distinctive marker of autophagy rapidly appeared in TMT-treated astrocytes but then it accumulates indicating a precocious block of the autophagic pathway. The inhibition of autophagy by 3-methyladenine at the level of the autophagosome formation partially rescues astrocytes from TMT-induced cell death. Interestingly, an impairment of autophagy was also observed by other authors following intoxication with arsenic and could represent a common feature of different environmental toxins