Vacancies, disorder-induced smearing of the electronic structure, and its implications for the superconductivity of anti-perovskite MgC0.93_{0.93}Ni2.85_{2.85}

The anti-perovskite superconductor MgC$_{0.93}$Ni$_{2.85}$ was studied using high-resolution x-ray Compton scattering combined with electronic structure calculations. Compton scattering measurements were used to determine experimentally a Fermi surface that showed good agreement with that of our supercell calculations, establishing the presence of the predicted hole and electron Fermi surface sheets. Our calculations indicate that the Fermi surface is smeared by the disorder due to the presence of vacancies on the C and Ni sites, but does not drastically change shape. The 20\% reduction in the Fermi level density-of-states would lead to a significant ($\sim 70\%$) suppression of the superconducting $T_c$ for pair-forming electron-phonon coupling. However, we ascribe the observed much smaller $T_c$ reduction at our composition (compared to the stoichiometric compound) to the suppression of pair-breaking spin fluctuations.Comment: 11 pages, 3 figure

Changes in acceleration and deceleration capacity throughout professional soccer match-play

As the acceleration and deceleration demands of soccer are currently not well understood, this study aimed to profile markers of acceleration and deceleration capacity during professional soccer match-play. This within-player observational study required reserve team players from a Premier League club to wear 10 Hz Global Positioning System units throughout competitive matches played in the 2013/2014 competitive season. Data is presented for players who completed four or more games during the season (n = 11) and variables are presented according to six 15 min intervals (I1-6: 00:00-14:59 min, 15:00-29:59 min, 30:00-44:59 min, 45:00-59:59 min, 60:00-74:59 min, 75:00-89:59 min). During I6, the distance covered (total, per minute, and at high intensity), number of sprints, accelerations (total and high intensity), decelerations (total and high intensity), and impacts were reduced compared to I1 (all P ≤ 0.05). The number of high intensity impacts remained unchanged throughout match-play (P > 0.05). These findings indicate that high intensity actions and markers of acceleration and deceleration capacity are reduced in the last 15 min of the normal duration of match-play. Such information can be used to increase the specificity of training programmes designed for soccer players while also giving further insight in to the effects of 90 min of soccer-specific exercise. Interventions that seek to maintain the acceleration and deceleration capacity of players throughout the full duration of a soccer match warrant investigation

A loop-mediated isothermal amplification (LAMP) assay for rapid and specific detection of airborne inoculum of Uromyces betae (sugar beet rust)

Sugar beet rust disease (causal agent Uromyces betae) represents a serious threat to worldwide sugar beet (Beta vulgaris) crops, causing yield losses of up to 10% in the UK. Currently, the disease is managed mainly by application of fungicides after rust disease symptoms appear. Development of a future forecasting system, incorporating data on environmental factors and U. betae inoculum levels, would enable better disease control by more targeted application of fungicides. In this study, we develop a first molecular diagnostic, targeted to cytochrome b DNA sequences and based on loop-mediated isothermal amplification (LAMP) technology, for rapid (<30 mins) and specific detection of U. betae. The new assay only detected U. betae strains (collected from across eastern England, the main sugar beet growing region in the UK); it did not detect other closely related pathogens (e.g. Puccinia sp., U. fabae) or others that are commonly found on sugar beet (Cercospora beticola, Erysiphae betae, Ramularia beticola). The assay could consistently detect down to small amounts of U. betae DNA (10 pg). Application of the new LAMP diagnostic to air spore tape samples collected between mid June – mid September from a single UK sugar beet field site revealed differences in temporal patterns of pathogen inoculum between the 2015 and 2016 seasons. The described LAMP assay could now be used as a component of a future automated inoculum-based forecasting system, enabling more targeted control of sugar beet rust disease

Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups

Background: Patient-centered health care for children with inborn errors of metabolism (IEM) and their families is important and requires an understanding of patient experiences, needs, and priorities. IEM-specific patient groups have emerged as important voices within these rare disease communities and are uniquely positioned to contribute to this understanding. We conducted qualitative interviews with IEM patient group representatives to increase understanding of patient and family experiences, needs, and priorities and inform patient-centered research and care. Methods: We developed a sampling frame of patient groups representing IEM disease communities from Canada, the United States, and United Kingdom. With consent, we interviewed participants to explore their views on experiences, needs, and outcomes that are most important to children with IEM and their families. We analyzed the data using a qualitative descriptive approach to identify key themes and sub-themes. Results: We interviewed 18 organizational representatives between February 28 and September 17, 2014, representing 16 IEMs and/or disease categories. Twelve participants voluntarily self-identified as parents and/or were themselves patients. Three key themes emerged from the coded data: managing the uncertainty associated with raising and caring for a child with a rare disease; challenges associated with the affected child’s life transitions, and; the collective struggle for improved outcomes and interventions that rare disease communities navigate. Conclusion: Health care providers can support children with IEM and their families by acknowledging and reducing uncertainty, supporting families through children’s life transitions, and contributing to rare disease communities’ progress toward improved interventions, experiences, and outcomes

Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey

Background and Objective: Children with inherited metabolic diseases often require complex and highly specialized care. Patient and family-centered care can improve health outcomes that are important to families. This study aimed to examine experiences of family caregivers (parents/guardians) of children diagnosed with inherited metabolic diseases with healthcare to inform strategies to improve those experiences. Methods: A cross-sectional mailed survey was conducted of family caregivers recruited from an ongoing cohort study. Participants rated their healthcare experiences during their child’s visits to five types of healthcare settings common for inherited metabolic diseases: the metabolic clinic, the emergency department, hospital inpatient units, the blood laboratory, and the pharmacy. Participants provided narrative descriptions of any memorable negative or positive experiences. Results: There were 248 respondents (response rate 49%). Caregivers were generally very or somewhat satisfied with the care provided at each care setting. Appropriate treatment, provider knowledge, provider communication, and care coordination were deemed essential aspects of satisfaction with care by the majority of participants across many settings. Memorable negative experiences were reported by 8–22% of participants, varying by setting. Among participants who reported memorable negative experiences, contributing factors included providers’ demeanor, lack of communication, lack of involvement of the family, and disregard of an emergency protocol letter provided by the family. Conclusions: While caregivers’ satisfaction with care for children with inherited metabolic diseases was high, we identified gaps in family-centered care and factors contributing to negative experiences that are important to consider in the future development of strategies to improve pediatric care for inherited metabolic diseases

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

Background: We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. We investigated their experiences regarding the management of disease, its impact on child and family life, and interactions with the health care system. Methods: From four Canadian centres, we conducted semi-structured telephone interviews with parents/caregivers of children with an IMD who were born between 2006 and 2015 and who were participating in a larger cohort study. Participants were selected with the aim of achieving a diverse sample with respect to treatment centre, IMD, and age of the child. Interviews emphasized the impacts of the disease and its treatment on the child and family and explicitly queried perceptions of interactions with the health care system. We identified emergent themes from the interview data. Results: We completed interviews with 21 parents/caregivers. The 21 children were aged \u3c1 to 7 years old with IMD that included amino acid disorders, urea cycle disorders, fatty acid oxidation disorders, and organic acid disorders or \u27other\u27 IMD. Most parents reported that they and their families had adapted well to their child\u27s diagnosis. Parents used proactive coping strategies to integrate complex disease management protocols into routine family life. An important source of stress was concern about the social challenges faced by their children. Participants reported positive interactions with their most involved health care providers within the metabolic clinic. However, they reported challenges associated with the health care system outside of disease-specific metabolic care, when encountering systems and providers unfamiliar with the child\u27s disease. Conclusions: The successful use of proactive coping strategies among parents of children with IMD in this study suggests the potential value of promoting positive coping and is an important direction for future study. Parents\u27 social concerns for their children were important stressors that warrant consideration by health care providers positioned to support families. Our results with respect to experiences with care highlight the important role of specialized metabolic clinics and point to a need for better coordination of the care that takes place outside the disease-specific management of IMD

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: A cohort study in Ontario, Canada

Background: We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative comparison cohort. Methods: Eligible children were identified via newborn screening between April 1, 2006 and March 31, 2010. Age-stratified rates of physician encounters, emergency department (ED) visits and inpatient hospitalizations to March 31, 2012 were compared using incidence rate ratios (IRR) and incidence rate differences (IRD). We used negative binomial regression to adjust IRRs for sex, gestational age, birth weight, socioeconomic status and rural/urban residence. Results: Throughout the first few years of life, children with MCAD deficiency (n = 40) experienced statistically significantly higher rates of physician encounters, ED visits, and hospital stays compared with the screen negative cohort. The highest rates of ED visits and hospitalizations in the MCAD deficiency cohort occurred from 6 months to 2 years of age (ED use: 2.1-2.5 visits per child per year; hospitalization: 0.5-0.6 visits per child per year), after which rates gradually declined. Conclusions: This study confirms that young children with MCAD deficiency use health services more frequently than the general population throughout the first few years of life. Rates of service use in this population gradually diminish after 24 months of age

Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians

Background: An improved understanding of diagnostic and treatment practices for patients with rare primary mitochondrial disorders can support benchmarking against guidelines and establish priorities for evaluative research. We aimed to describe physician care for patients with mitochondrial diseases in Canada, including variation in care. Methods: We conducted a cross-sectional survey of Canadian physicians involved in the diagnosis and/or ongoing care of patients with mitochondrial diseases. We used snowball sampling to identify potentially eligible participants, who were contacted by mail up to five times and invited to complete a questionnaire by mail or internet. The questionnaire addressed: personal experience in providing care for mitochondrial disorders; diagnostic and treatment practices; challenges in accessing tests or treatments; and views regarding research priorities. Results: We received 58 survey responses (52% response rate). Most respondents (83%) reported spending 20% or less of their clinical practice time caring for patients with mitochondrial disorders. We identified important variation in diagnostic care, although assessments frequently reported as diagnostically helpful (e.g., brain magnetic resonance imaging, MRI/MR spectroscopy) were also recommended in published guidelines. Approximately half (49%) of participants would recommend mitochondrial cocktails for all or most patients, but we identified variation in responses regarding specific vitamins and cofactors. A majority of physicians recommended studies on the development of effective therapies as the top research priority. Conclusions: While Canadian physicians\u27 views about diagnostic care and disease management are aligned with published recommendations, important variations in care reflect persistent areas of uncertainty and a need for empirical evidence to support and update standard protocols