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Background:ATP8A2 mutations have only recently been associated with human disease. We present the clinical features from the largest cohort of patients with this disorder reported to date. Methods: An observational study of 9 unreported and 2 previously reported patients with biallelic ATP8A2 mutations was carried out at multiple centres. Results: The mean age of the cohort was 9.4 years old (range: 2.5-28 yrs). All patients demonstrated developmental delay, severe hypotonia and movement disorders: chorea/choreoathetosis (100%), dystonia (27%) or facial dyskinesia (18%). Hypotonia was apparent at birth (70%) or before 6 months old (100%). Optic atrophy was observed in 75% of patients who had a funduscopic examination. MRI of the brain was normal for most patients with a small proportion showing mild cortical atrophy (30%), delayed myelination (20%) and/or hypoplastic optic nerves (20%). Epilepsy was seen in two older patients. Conclusions:ATP8A2 gene mutations have emerged as a cause of a novel phenotype characterized by developmental delay, severe hypotonia and hyperkinetic movement disorders. Optic atrophy is common and may only become apparent in the first few years of life, necessitating repeat ophthalmologic evaluation. Early recognition of the cardinal features of this condition will facilitate diagnosis of this disorder.
Vaccination remains a mainstay of companion animal population health. However, how vaccine use at a population level complies with existing guidelines is unknown. Here we use electronic health records to describe vaccination in dogs, cats and rabbits attending a large sentinel network of UK veterinary practices. In total, 77.9% (95% CI: 77.6–78.1) of animals had recorded vaccinations. The percentage of animals with recorded vaccinations was higher in dogs, neutered animals, in insured dogs and cats and in purebred dogs. Vaccination rates varied in different regions of Great Britain in all species. Dogs and cats belonging to owners living in less deprived areas of England and Scotland were more likely to be recorded as vaccinated. In the vaccinated population, cats received more core vaccines per year of life (0.86) than dogs (0.75), with feline leukaemia vaccines almost as frequent as core vaccines. In dogs, leptospira vaccines were more frequent than core vaccines. This descriptive study suggests a substantial proportion of animals are not benefiting from vaccine protection. For the first time, we identify potential factors associated with variations in recorded vaccination frequency, providing a critical baseline against which to monitor future changes in companion animal vaccination and evidence to inform future targeted health interventions.
Previous research indicates that low-income individuals often struggle to consume the recommended amount of fruits and vegetables (F&V). LINK Up Illinois is a farmers’ market incentive programme that aims to increase F&V consumption among Supplemental Nutrition Assistance Program (SNAP) recipients by improving access to and affordability of locally grown foods. The present research aimed to identify barriers to F&V consumption that exist among users of the LINK Up Illinois programme.
Farmers’ markets in Chicago, Springfield, Northbrook, Woodstock, Aurora and Urbana, IL.
In 2016, a volunteer sample of 140 LINK Up Illinois users (mean age 42·5 years; 81·7 % female; 28·7 % African American; 44·0 % obese) completed a survey at participating farmers’ markets across the state. Information on demographics, food shopping behaviours, programme satisfaction, barriers to F&V consumption and frequency of F&V consumption was collected and examined.
Approximately 23 % of survey participants reported consuming F&V ≥3 times/d. The barriers to F&V consumption most often reported by survey participants were the cost of F&V (29·5 %), spoilage (18·6 %), knowing how to cook F&V (8·7 %) and not thinking about F&V when hungry (8·6 %). Results from multivariable-adjusted logistic regression models suggested that reporting one or more barriers was associated with reduced odds of consuming vegetables ≥3 times/d, but not fruits.
Cost, spoilage and knowledge of cooking are key barriers to F&V consumption that exist among LINK Up Illinois users. Strategies are needed to mitigate these barriers and increase F&V consumption in this population.
The asylum process has received a lot of recent media attention but little has been said about the psychological needs of those seeking or granted asylum. Many asylum seekers have experienced trauma and torture, which is associated with substantial psychiatric and psychological morbidity. The Spiritan Asylum Services Initiative (Spirasi) is Ireland’s national treatment centre for survivors of torture. The aim of this study was to examine the demographic profile of those attending Spirasi and to consider potential clinical implications of this.
We retrospectively analysed demographic data relating to the 2590 individuals who attended Spirasi over a 12-year period (2001–2012 inclusive).
The majority of attenders were asylum seekers (88%), male (71%) and from African countries. The mean age was 31.9 years. The rate of new referrals, as a percentage of Ireland’s asylum-seeking population, has stabilised at ~6% since 2008. Women are underrepresented among those who attend.
The number of new referrals to Spirasi is lower than expected given international estimates of torture prevalence and the impact this has on mental health. Clinicians working with populations of asylum seekers and refugees should sensitively enquire about such events and be aware of the available services. Female refugees and asylum seekers are underrepresented, especially from Asian and Middle Eastern regions. Psychiatric, psychological and general practice services need to respond flexibly to evolving patterns of migration and address potential barriers to access, especially among female refugees and asylum seekers.
To measure the trends in traditional marine food intake and serum vitamin D levels in Alaska Native women of childbearing age (20–29 years old) from the 1960s to the present.
We measured a biomarker of traditional food intake, the δ15N value, and vitamin D level, as 25-hydroxycholecalciferol (25(OH)D3) concentration, in 100 serum samples from 20–29-year-old women archived in the Alaska Area Specimen Bank, selecting twenty-five per decade from the 1960s to the 1990s. We compared these with measurements of red-blood-cell δ15N values and serum 25(OH)D3 concentrations from 20–29-year-old women from the same region collected during the 2000s and 2010s in a Center for Alaska Native Health Research study.
The Yukon Kuskokwim Delta region of south-west Alaska.
Alaska Native women (n 319) aged 20–29 years at the time of specimen collection.
Intake of traditional marine foods, as measured by serum δ15N values, decreased significantly each decade from the 1960s through the 1990s, then remained constant from the 1990s through the present (F5,306=77·4, P<0·0001). Serum vitamin D concentrations also decreased from the 1960s to the present (F4,162=26·1, P<0·0001).
Consumption of traditional marine foods by young Alaska Native women dropped significantly between the 1960s and the 1990s and was associated with a significant decline in serum vitamin D concentrations. Studies are needed to evaluate the promotion of traditional marine foods and routine vitamin D supplementation during pregnancy for this population.
Acquired immunity influences the severity of parasitic disease, but modelling the effects of acquired immunity in helminth infections has proved challenging. This may be due to a lack of suitable immunological data, or to the perceived complexity of modelling the immune response. We have developed a model of T. circumcincta infection in domestic sheep that incorporates the effects of acquired immunity on parasite establishment and fecundity. A large data set from commercially managed populations of Scottish Blackface sheep was used, which included relationships between IgA activity and worm length, and between worm length and fecundity. Use was also made of a recently published meta-analysis of parasite establishment rates. This realistic but simple model of nematode infection emulates observed patterns of faecal egg counts. The end-of-season faecal egg counts are remarkably robust to perturbations in the majority of the parameters, possibly because of priming of the immune system early in the season, reducing parasite establishment and growth and, therefore, faecal egg counts. Lowering the amount of early infection leads to higher end-of-season egg counts. The periparturient rise in egg counts in ewes appears to have an important role in supplying infection for the priming of the immune response. This feedback in the immune priming suggests that nematode infections may be difficult to eliminate.
A 13-month study of wild mice (Mus domesticus) in wheatlands in southeastern Australia contrasted changes in the seroprevalence of antibody to 13 viruses and the occurrence of helminths with changes in their population dynamics. Mice were seropositive for mouse hepatitis virus (MHV), rotavirus, minute virus of mice (MVM), mouse adenovirus (MAdV), reovirus (reo 3), and murine cytomegalovirus (MCMV). The seroprevalences of all but rotavirus varied significantly with time and increased with host density. Near the end of the study, host density declined rapidly and the seroprevalence of MVM and reo 3 increased significantly. These two viruses had low seroprevalence when host survival was high and high seroprevalence when host survival was low, indicating they may play a role in regulating mouse populations. In the case of MVM, there was evidence of a viral epizootic during the decline in mouse abundance. The prevalence of four helminths (Taenia taeniaeformis, Syphacia obvelata, and Vampirolepis spp.) differed significantly with time but showed no apparent association with host density. These findings highlight the need for further study on the effect of viruses on the population dynamics of mice.
It is unclear whether Axis II psychopathology or co-morbid clinical syndromes result in the treatment-seeking behaviour and social impairment of patients with borderline personality disorder (BPD). This study examined the independent associations between social functioning and service use and Axis I and Axis II disorders in persons with BPD in the national household population of Britain.
The study was a cross-sectional survey of adults aged 16–74 years in households (n=8397). Data included self-reported consultations with health-care professionals and behavioural problems. Diagnosis was determined by computer-assisted interviews. Analyses included logistic regression adjusting for demography, co-morbid Axis I clinical syndromes and other Axis II disorders.
Consultation in the past year was reported by 57.5% of persons with BPD but only 13.4% reported lifetime psychiatric admission. BPD was not independently associated with impaired functioning but was associated with co-morbid psychotic, depressive and anxiety disorders. Only general practitioners (GPs) were consulted for problems independently due to BPD.
Functional effects of BPD are mediated through co-morbid clinical syndromes, not Axis II psychopathology. A subgroup do not have co-morbid disorders or seek treatment, and are high functioning.
The association between poor mental health and poverty is well known but its mechanism is not fully understood. This study tests the hypothesis that the association between low income and mental disorder is mediated by debt and its attendant financial hardship.
The study is a cross-sectional nationally representative survey of private households in England, Scotland and Wales, which assessed 8580 participants aged 16–74 years living in general households. Psychosis, neurosis, alcohol abuse and drug abuse were identified by the Clinical Interview Schedule – Revised, the Schedule for Assessment in Neuropsychiatry (SCAN), the Alcohol Use Disorder Identification Test (AUDIT) and other measures. Detailed questions were asked about income, debt and financial hardship.
Those with low income were more likely to have mental disorder [odds ratio (OR) 2.09, 95% confidence interval (CI) 1.68–2.59] but this relationship was attenuated after adjustment for debt (OR 1.58, 95% CI 1.25–1.97) and vanished when other sociodemographic variables were also controlled (OR 1.07, 95% CI 0.77–1.48). Of those with mental disorder, 23% were in debt (compared with 8% of those without disorder), and 10% had had a utility disconnected (compared with 3%). The more debts people had, the more likely they were to have some form of mental disorder, even after adjustment for income and other sociodemographic variables. People with six or more separate debts had a six-fold increase in mental disorder after adjustment for income (OR 6.0, 95% CI 3.5–10.3).
Both low income and debt are associated with mental illness, but the effect of income appears to be mediated largely by debt.
Alcohol is commonly considered to be associated with persistence of common mental disorder (CMD; anxiety/depression). However no community-based longitudinal studies have investigated the direction of causality.
We examined the association between alcohol consumption and recovery from CMD using data on 706 community-based subjects with CMD who were followed for 18 months. Alcohol consumption at baseline was defined as hazardous drinking [Alcohol Use Disorders Identification Test (AUDIT) ⩾8], binge drinking (defined as six or more units of alcohol on one occasion, approximately two to three pints of commercially sold beer) and dependence.
When compared with a non-binge-drinking group, non-recovery at follow-up was associated with binge drinking on at least a monthly basis at baseline, although the confidence interval (CI) included unity [adjusted odds ratio (OR) 1.47, 95% CI 0.89–2.45]. There was also weak evidence that alcohol dependence was associated with non-recovery (adjusted OR 1.37, 95% CI 0.67–2.81). There was little evidence to support hazardous drinking as a risk factor for non-recovery (adjusted OR 1.12, 95% CI 0.67–1.88).
Binge drinking may be a potential risk factor for non-recovery from CMD, although the possibility of no effect cannot be excluded. Larger studies are required to refute or confirm this finding.
Our aim was to obtain knowledge of how meteorological conditions affect community epidemics of respiratory syncytial virus (RSV) infection. To this end we recorded year-round RSV activity in nine cities that differ markedly in geographic location and climate. We correlated local weather conditions with weekly or monthly RSV cases. We reviewed similar reports from other areas varying in climate. Weekly RSV activity was related to temperature in a bimodal fashion, with peaks of activity at temperatures above 24–30°C and at 2–6°C. RSV activity was also greatest at 45–65% relative humidity. RSV activity was inversely related to UVB radiance at three sites where this could be tested. At sites with persistently warm temperatures and high humidity, RSV activity was continuous throughout the year, peaking in summer and early autumn. In temperate climates, RSV activity was maximal during winter, correlating with lower temperatures. In areas where temperatures remained colder throughout the year, RSV activity again became nearly continuous. Community activity of RSV is substantial when both ambient temperatures and absolute humidity are very high, perhaps reflecting greater stability of RSV in aerosols. Transmission of RSV in cooler climates is inversely related to temperature possibly as a result of increased stability of the virus in secretions in the colder environment. UVB radiation may inactivate virus in the environment, or influence susceptibility to RSV by altering host resistance.
To control plagues of free-living mice (Mus domesticus) in Australia, a recombinant murine cytomegalovirus (MCMV) expressing fertility proteins is being developed as an immunocontraceptive agent. Real-time quantitative PCR was used to monitor the transmission of two genetically variable field strains of MCMV through mouse populations after 25% of founding mice were infected with the N1 strain, followed by the G4 strain 6 weeks later. Pathogen-free wild-derived mice were released into outdoor enclosures located in northwestern Victoria (Australia). Of those mice not originally inoculated with virus, N1 DNA was detected in more than 80% of founder mice and a third of their offspring and similarly, G4 DNA was detected in 13% of founder mice and in 3% of their offspring. Thus, prior immunity to N1 did not prevent transmission of G4. This result is promising for successful transmission of an immunocontraceptive vaccine through Australian mouse populations where MCMV infection is endemic.
The incidence of suicidal thoughts in the British population is unknown.
To determine the factors associated with the development of, and recovery from, suicidal thoughts.
An 18-month follow-up survey investigated 2404 of the adults who took part in the second National Psychiatric Morbidity Survey.
The annual incidence of suicidal thoughts was 2.3%. Incidence was highest in women and among 16- to 24-year-olds. Increased incidence was associated with not being in a stable relationship, low levels of social support and being unemployed. Fifty-seven percent of those with suicidal thoughts at baseline had recovered by the 18-month follow-up interview.
Risk factors for suicidal thoughts are similar to those for completed suicide, although the age and gender patterning is different. Fewer than 1 in 200 people who experience suicidal thoughts go on to complete suicide. Further study into explanations for the differences in the epidemiology of suicidal thoughts and suicide is crucial to understanding the pathways (protective and precipitating) linking suicidal thoughts to completed suicide and should help inform effective prevention of suicide.
The links between drug use and psychosis are of major aetiological and prognostic significance. Psychosis and drug dependence frequently co-occur within the prison population, providing the opportunity to study this link more closely.
To explore the relationship between psychosis and drug dependence in a sample of prisoners.
A total of 3142 prisoners were surveyed nationally and structured clinical data were obtained from a subsample of 503 respondents. Psychiatric assessment was based on the Schedules for Clinical Assessment in Neuropsychiatry (version 1.0). Measures of amphetamine, cannabis, cocaine and heroin use and dependence were obtained through self-report.
Logistic regression analyses indicated that first use of amphetamines or cocaine before the age of 16 years and severe cannabis or cocaine dependence were related to an increased risk of psychosis. In contrast, severe dependence on heroin was associated with a reduced risk of this classification.
Severe dependence on cannabis and psychostimulants is associated with a higher risk of psychosis and is in contrast to severe dependence on heroin, which has a negative relationship with psychosis.
We studied the seroprevalence of three viruses (mouse cytomegalovirus (MCMV), minute virus
of mice (MVM), and mouse parvovirus (MPV)) in house mice (Mus domesticus) in 1995–7. In
the first year average mouse density was less than 1 mouse/ha. From November 1995 to May
1996 the population increased at an average rate of 7% per week, a doubling time of about 10
weeks. From August 1996 to May 1997 the population increased at an average rate of 10%
per week, a doubling time of about 7·5 weeks. From a peak around 250 mice/ha in May 1997,
the mouse population fell 19% per week to 5 mice/ha in October 1997. The seroprevalence for
all three viruses varied dramatically over time. MCMV had the highest seroprevalence (61·7%),
followed by MVM (8·5%) and MPV (18·4%). Time series data indicated that MCMV spread
rapidly through the population of mice once trap success was greater than 14% (40–100
mice/ha). By contrast MVM and MPV seroprevalence occurred with a 2–3 month and 3–4
month time lag, respectively. The current study supports the contention that MCMV would be
a good carrier for an immunocontraceptive vaccine for controlling field populations of mice.
Alcoholism can result in a number of severe consequences to the central nervous system, including Korsakoff's psychosis, delusions, delirium, Wernicke's encephalopathy, and cerebellar degeneration. Many of these disorders have a substantially higher prevalence than had been previously believed. Neuropathologic and neuroimaging studies have been instrumental in identifying the changes undergone by the alcoholic brain and the factors that may contribute to alcohol-induced brain damage. Biologic differences appear to make women especially susceptible to central nervous system insult from alcohol abuse. The damage caused by alcohol may be associated, in part, with thiamine deficiency, neuronal excitotoxicity, and magnesium wasting.
The hypothesis that a liver-inhabiting nematode, Capillaria hepatica, can regulate abundance of the house mouse (Mus domesticus) was tested in enclosures, in southeastern Australia. Changes in mouse abundance, and the relationship between mortality and host abundance were compared in three treatment and three control populations. Any effect of C. hepatica on mouse abundance was masked by an unknown regulating factor(s). This factor(s) caused density-dependent mortality in the control and treatment populations and, together with strong seasonal trends in parasite transmission, confounded our test of the ability of C. hepatica to regulate the abundance of house mice. The seasonal trends in transmission have important implications for the potential of this parasite as a biological control agent and for models of the interaction of C. hepatica and mouse populations. Transmission of C. hepatica apparently occurred throughout the 18 month study, further supporting its potential as a biological agent in the control of mouse plagues in this region.