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Background Little is known about women veterans’ intimate partner violence (IPV) experiences during the COVID-19 pandemic or the impacts of pandemic-related stress on their mental and physical health. Objectives To identify IPV experiences among women veterans prior to and during the pandemic, pandemic-related stressors, and examine their respective contributions to mental and physical health. Design National sample of women veterans drawn from a larger web-based longitudinal study. Relationships between recent IPV and pandemic-related stressors were tested with linear regressions, controlling for pre-pandemic IPV and mental and physical health symptoms, demographic, and military-related covariates. Participants One hundred forty-two women veterans (Mage=58.8 years). Main Measures We assessed IPV (CTS-2), PTSD (PCL-5), depression (CESD), anxiety (DASS-A), physical health (PHQ-15), and physical health–related quality of life (SF-12) prior to the pandemic (June 2016–December 2016/January 2017) and during the pandemic study period (March 2020–December 2020/January 2021). We assessed pandemic-related stressors (EPII) during the pandemic study period. Key Results Over a third (38.7%) of participants experienced IPV during the pandemic study period (psychological: 35.9%, physical: 9.9%, sexual: 4.2%). Overall rates, frequency, and severity of IPV experience did not significantly differ between the pre-pandemic and pandemic study periods. Few participants tested positive for COVID-19 (4.2%); however, most participants reported experiencing pandemic-related stressors across life domains (e.g., social activities: 88%, physical health: 80.3%, emotional health: 68.3%). IPV during the pandemic and pandemic-related stressors were both associated with greater PTSD and depressive symptoms. Pandemic-related stressors were associated with worse anxiety and physical health symptoms. Neither IPV during the pandemic nor pandemic-related stressors were associated with physical health–related quality of life. Conclusions IPV experiences during the pandemic were common among women veterans, as were pandemic-related stressors. Although IPV did not increase in the context of COVID-19, IPV experiences during the pandemic and pandemic-related stressors were linked with poorer mental and physical health.

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive lysosomal accumulation of glucosylceramide (GlcCer) and its deacylated derivate, glucosylsphingosine (GlcSph). GCase is encoded by the GBA1 gene, located on chromosome 1q21 16 kb upstream from a highly homologous pseudogene. To date, more than 400 GBA1 pathogenic variants have been reported, many of them derived from recombination events between the gene and the pseudogene. In the last years, the increased access to new technologies has led to an exponential growth in the number of diagnostic laboratories offering GD testing. However, both biochemical and genetic diagnosis of GD are challenging and to date no specific evidence-based guidelines for the laboratory diagnosis of GD have been published. The objective of the guidelines presented here is to provide evidence-based recommendations for the technical implementation and interpretation of biochemical and genetic testing for the diagnosis of GD to ensure a timely and accurate diagnosis for patients with GD worldwide. The guidelines have been developed by members of the Diagnostic Working group of the International Working Group of Gaucher Disease (IWGGD), a non-profit network established to promote clinical and basic research into GD for the ultimate purpose of improving the lives of patients with this disease. One of the goals of the IWGGD is to support equitable access to diagnosis of GD and to standardize procedures to ensure an accurate diagnosis. Therefore, a guideline development group consisting of biochemists and geneticists working in the field of GD diagnosis was established and a list of topics to be discussed was selected. In these guidelines, twenty recommendations are provided based on information gathered through a systematic review of the literature and two different diagnostic algorithms are presented, considering the geographical differences in the access to diagnostic services. Besides, several gaps in the current diagnostic workflow were identified and actions to fulfill them were taken within the IWGGD. We believe that the implementation of recommendations provided in these guidelines will promote an equitable, timely and accurate diagnosis for patients with GD worldwide.

Background Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There are no published national or international consensus guidelines for the diagnosis and management of patients with ASMD. For these reasons, we have developed clinical guidelines that defines standard of care for ASMD patients. Methods The information contained in these guidelines was obtained through a systematic literature review and the experiences of the authors in their care of patients with ASMD. We adopted the Appraisal of Guidelines for Research and Evaluation (AGREE II) system as method of choice for the guideline development process. Results The clinical spectrum of ASMD, although a continuum, varies substantially with subtypes ranging from a fatal infantile neurovisceral disorder to an adult-onset chronic visceral disease. We produced 39 conclusive statements and scored them according to level of evidence, strengths of recommendations and expert opinions. In addition, these guidelines have identified knowledge gaps that must be filled by future research. Conclusion These guidelines can inform care providers, care funders, patients and their carers about best clinical practice and leads to a step change in the quality of care for patients with ASMD with or without enzyme replacement therapy (ERT).

The present study examined the extent of cyber and in-person unwanted pursuit behaviors (UPBs) reported by undergraduate men and women who pursued former partners and the pursuer’s perceptions of the impact of their pursuit on their targets. Among a sample of 1167 undergraduates (66.8 % women; 95.4 % heterosexual) approximately 80 % of men and women reported engaging in UPBs toward former partners, with cyber pursuit endorsed by a subset of those who engaged in in-person UPBs. Despite few gender differences in overall pursuit, men endorsed engaging in a number of specific behaviors more than did women. Most UPBs did receive responses from targets, and pursuers generally did not perceive their behaviors as annoying, threatening, or frightening. Women perceived that targets had more negative responses to UPBs, particularly to threatening or violent pursuit, and men perceived more positive or neutral responses overall. Minor UPBs were associated with relationship reconciliation among women and men, whereas severe UPBs were associated with reconciliation among men only. Results suggest that pursuers likely underestimate the impact of their behaviors on targets and that pursuers’ efforts, even severe and threatening, are often reinforced, particularly for men who pursue. Universities must be aware of UPBs and provide prevention programs specific to healthy relationship dissolution and pursuit. Provision of corrective information regarding the impact of severe and threatening pursuit may assist in reducing these behaviors.

Stretching is a common method used to prevent muscle shortening and improve limited mobility. However, the effect of different time periods on stretching-induced adaptation of the extracellular matrix and its regulatory elements have yet to be investigated. We aimed to evaluate the expression of fibrillar collagens, sarcomerogenesis, metalloproteinase (MMP) activity and gene expression of the extracellular matrix (ECM) regulators in the soleus (SOL) muscle of rats submitted to different stretching periods. The soleus muscles were submitted to 10 sets of passive stretching over 10 (St 10d) or 15 days (St 15d) (1 min per set, with 30 seconds’ rest between sets). Sarcomerogenesis, muscle cross-sectional area (CSA), and MMP activity and mRNA levels in collagen (type I, III and IV), connective tissue growth factor (CTGF), growth factor-beta (TGF-β), and lysyl oxidase (LOX) were analyzed. Passive stretching over both time periods mitigated COL-I deposition in the SOL muscle of rats. Paradoxically, 10 days of passive stretching induced COL-I and COL-III synthesis, with concomitant upregulation of TGF-β1 and CTGF at a transcriptional level. These responses may be associated with lower LOX mRNA levels in SOL muscles submitted to 10 passive stretching sessions. Moreover, sarcomerogenesis was observed after 15 days of stretching, suggesting that stretching-induced muscle adaptations are time-dependent responses.

Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lipids in the lysosomes. The clinical spectrum of NPC disease ranges from a neonatal rapidly progressive fatal disorder to an adult-onset chronic neurodegenerative disease. The age of onset of the first (beyond 3 months of life) neurological symptom may predict the severity of the disease and determines life expectancy. NPC has an estimated incidence of ~ 1: 100,000 and the rarity of the disease translate into misdiagnosis, delayed diagnosis and barriers to good care. For these reasons, we have developed clinical guidelines that define standard of care for NPC patients, foster shared care arrangements between expert centres and family physicians, and empower patients. The information contained in these guidelines was obtained through a systematic review of the literature and the experiences of the authors in their care of patients with NPC. We adopted the Appraisal of Guidelines for Research & Evaluation (AGREE II) system as method of choice for the guideline development process. We made a series of conclusive statements and scored them according to level of evidence, strengths of recommendations and expert opinions. These guidelines can inform care providers, care funders, patients and their carers of best practice of care for patients with NPC. In addition, these guidelines have identified gaps in the knowledge that must be filled by future research. It is anticipated that the implementation of these guidelines will lead to a step change in the quality of care for patients with NPC irrespective of their geographical location.

Niemann–Pick C, the autosomal recessive neuro-visceral disease resulting from a failure of cholesterol trafficking within the endosomal–lysosomal pathway, is due to mutations in NPC1 or NPC2 genes. We characterized 34 unrelated patients including 32 patients with mutations in NPC1 gene and two patients in NPC2 gene. Overall, 33 distinct genotypes were encountered. Among the 21 unpublished NPC1 alleles, 15 were due to point mutations resulting in 13 codon replacements (p.C100S, p.P237L, p.R389L, p.L472H, p.Y634C, p.S636F, p.V780G, p.Q921P, p.Y1019C, p.R1077Q, p.L1102F, p.A1187V, and p.L1191F) and in two premature stop codons (p.R934X and p.Q447X); a new mutant carried two in cis mutations, p.[L648H;M1142T] and four other NPC1 alleles were small deletions/insertions leading both to frame shifts and premature protein truncations (p.C31WfsX26, p.F284LfsX26, p.E1188fsX54, and p.T1205NfsX53). Finally, the new intronic c.464-2A>C change at the 3′ acceptor splice site of intron 4 affected NPC1 messenger RNA processing. We also found a new NPC2 mutant caused by a change of the first codon (p.M1L). The novel missense mutations were further investigated by two bioinformatics approaches. Panther proein classification system computationally predicted the detrimental effect of all new missense mutations occurring at evolutionary conserved positions. The other bioinformatics approach was based on prediction of structural alterations induced by missense mutations on the NPC1 atomic models. The in silico analysis predicted protein malfunctioning and/or local folding alteration for most missense mutations. Moreover, the effects of the missense mutations (p.Y634C, p.S636F, p.L648H, and p.V780G) affecting the sterol-sensing domain (SSD) were evaluated by docking simulation between the atomic coordinates of SSD model and cholesterol.

Fusarium Head Blight (FHB) has become a disease of increasing concern in all wheat growing areas and the evidence suggests that currently available varieties in Northwestern Europe are susceptible to this disease. The purpose of this experiment was to assess the FHB resistance status of exotic germplasm. Exotic entries were compared with three locally adapted, susceptible check varieties under field conditions over three seasons (1997, 1998 and 1999). The exotic germplasm exhibited extensive variation in response to inoculation with local ecotypes of Fusarium culmorum. Several entries were characterised by consistently low levels of plant symptoms, kernel symptoms and grain yield reduction. A further two exotics may merit further investigation as possible sources of novel tolerance or resistance mechanisms. In addition to this elite germplasm the exotic entries also included ones that were consistently inferior to the locally adapted, check varieties. Thus, despite the fact that all of this germplasm had been ranked as resistant to FHB by CIMMYT it was evident that this resistance was not always expressed under Irish conditions. These results highlight the necessity for local evaluation.

Stephen Yablo has recently argued for a novel solution to the mental causation problem: the mental is related to the physical as determinables are related to determinates; determinables are not causal rivals with their determinates; so the mental and the physical are not causal rivals. Despite its attractions the suggestion seems hard to accept. In this paper I develop the idea that mental properties and physical properties are not causal rivals. Start with property dualism, supervenience, multiple realizability, and the claim that no more than one supervenience base for a mental property can be had by a single instance of the mental property. Then a probabilistic account of causation will be unable to certify either mental properties or physical properties as causal factors for effect types. I suggest that this shows that we should not count mental properties as causal rivals with physical properties.

Fusarium Head Blight (FHB) is a disease of increasing concern in wheat growing areas of northwestern Europe. The disease causes a reduction in grain yield and quality, and the production of mycotoxins. It is the latter area that elevates this disease to a higher order of importance due to the adverse effects reported on animal and human health. Metconazole was evaluated in trials over a three-year period. The initial trial was a study of the efficacy of metconazole and tebuconazole in the control of FHB in spring wheat. In 1997, ail fungicide treatments had significantly less disease (P

The mesoscale (time) control of annual storm-surge activity on quasi-annual saltmarsh (tidal marsh) deposition is studied from two estuarine saltmarshes on the high-energy NW coast of Ireland. Both saltmarshes exhibit a cliffed edge where maximum sedimentary variation is expressed in the form of lamination. Sections were logged and characterised by lithofacies based on grain-size determinations. Sections dated using Cs and Pb determinations indicated deposition records of decadal to century scale (c. 0.5 cm a-1). Linear multiple regression explains (p< 0.05) half the variation of the deposition rate by annual coastal forcing (surge frequency and magnitude) and sediment modes (coarse silt to clay). Further variability in deposition rate is partially reflected in the non-linear response between forcing and deposition that is affected by mesoscale (30, 11 and 5-year) periodicities in forcing. Increased annual surge activity appears to be associated with a coarsening of, and reduction in annual deposition. A relationship between annual deposition rate and fractal dimension of surge timing (i.e. the clustering of surge events) is identified.

Introduction: Transnational or cross-border higher education has rapidly expanded since the 1980s. Together with that expansion issues on quality assurance came to the forefront. This article aims to identify key issues regarding quality assurance of transnational higher education and discusses the quality assurance of the tropEd Network for International Health in Higher Education in relation to these key issues. Methods: Literature review and review of documents. Results: From the literature the following key issues regarding transnational quality assurance were identified and explored: comparability of quality assurance frameworks, true collaboration versus erosion of national education sovereignty, accreditation agencies and transparency. The tropEd network developed a transnational quality assurance framework for the network. The network accredits modules through a rigorous process which has been accepted by major stakeholders. This process was a participatory learning process and at the same time the process worked positive for the relations between the institutions. Discussion: The development of the quality assurance framework and the process provides a potential example for others.

Child safety in automobiles became an important safety issue during the 1970s. It was recognized that children needed their own specific restraint systems and that unrestrained children were particularly susceptible to serious injuries, in particular head injury. As a result performance standards for child restraints were issued by the federal government while states passed child restraint use laws. This study examined the cost per life year saved for child restraints which were in use in 1987. These costs are likely to be overestimated since the analysis did not consider the benefits from injury reduction, the quality of the life year saved and the effect of the child's death on remaining family members. The discount rate had a major impact on the cost per life year saved due to the long life expectancy of young children. It was concluded that child restraints were cost effective though problems of misuse and nonuse remained.

The purpose of this paper was to investigate the impact of household characteristics and preferences for Japanese cars on the demand for small cars in the United States. Two stage probit analysis was used to examine the impact of various explanatory variables on the purchase decision. The results indicated that preferences for Japanese cars, income, price and several household characteristics had a significant impact on the probability of purchasing a small car. The results of this study provide support for freer trade in automobiles and higher gasoline taxes as energy conservation strategies.

We report the molecular characterization of 12 unrelated Italian patients affected with Sandhoff disease (SD), a recessively inherited disorder caused by mutations in HEXB gene. We identified 11 different mutations of which six are novel: one large deletion of 2, 406 nt, (c.299+1471_408del2406), one frameshift mutation c.965delT (p.I322fsX32), one nonsense c.1372C>T (p.Q458X), and three splicing mutations (c.299G>T, c.300-2A>G and c.512-1G>T). One allele was only characterized at the messenger RNA (mRNA) level (r = 1170_1242del). Real-time polymerase chain reaction analysis of the HEXB mRNA from fibroblasts derived from patients carrying the novel point mutations showed that the presence of the premature termination codon in the transcript bearing the mutation c.965delT triggers the nonsense-mediated decay (NMD) pathway, which results in the degradation of the aberrant mRNA. The presence of the c.299G>T mutation leads to the degradation of the mutated mRNA by a mechanism other than NMD, while mutations c.300-2A>G and c.512-1G>T cause the expression of aberrant transcripts. In our group, the most frequent mutation was c.850C>T (p.R284X) representing 29% of the alleles. Haplotype analysis suggested that this mutation did not originate from a single genetic event. Interestingly, the common 16-kb deletion mutation was absent. This work provides valuable information regarding the molecular genetics of SD in Italy and provides new insights into the molecular basis of the disease.