To send content items to your account,
please confirm that you agree to abide by our usage policies.
If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account.
Find out more about sending content to .
To send content items to your Kindle, first ensure firstname.lastname@example.org
is added to your Approved Personal Document E-mail List under your Personal Document Settings
on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part
of your Kindle email address below.
Find out more about sending to your Kindle.
Note you can select to send to either the @free.kindle.com or @kindle.com variations.
‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi.
‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.
Spinal muscular atrophy (SMA) is a devastating rare disease that affects individuals regardless of ethnicity, gender, and age. The first-approved disease-modifying therapy for SMA, nusinursen, was approved by Health Canada, as well as by American and European regulatory agencies following positive clinical trial outcomes. The trials were conducted in a narrow pediatric population defined by age, severity, and genotype. Broad approval of therapy necessitates close follow-up of potential rare adverse events and effectiveness in the larger real-world population.
The Canadian Neuromuscular Disease Registry (CNDR) undertook an iterative multi-stakeholder process to expand the existing SMA dataset to capture items relevant to patient outcomes in a post-marketing environment. The CNDR SMA expanded registry is a longitudinal, prospective, observational study of patients with SMA in Canada designed to evaluate the safety and effectiveness of novel therapies and provide practical information unattainable in trials.
The consensus expanded dataset includes items that address therapy effectiveness and safety and is collected in a multicenter, prospective, observational study, including SMA patients regardless of therapeutic status. The expanded dataset is aligned with global datasets to facilitate collaboration. Additionally, consensus dataset development aimed to standardize appropriate outcome measures across the network and broader Canadian community. Prospective outcome studies, data use, and analyses are independent of the funding partner.
Prospective outcome data collected will provide results on safety and effectiveness in a post-therapy approval era. These data are essential to inform improvements in care and access to therapy for all SMA patients.
Maternal mental health during pregnancy and postpartum predicts later emotional and behavioural problems in children. Even though most perinatal mental health problems begin before pregnancy, the consequences of preconception maternal mental health for children's early emotional development have not been prospectively studied.
We used data from two prospective Australian intergenerational cohorts, with 756 women assessed repeatedly for mental health problems before pregnancy between age 13 and 29 years, and during pregnancy and at 1 year postpartum for 1231 subsequent pregnancies. Offspring infant emotional reactivity, an early indicator of differential sensitivity denoting increased risk of emotional problems under adversity, was assessed at 1 year postpartum.
Thirty-seven percent of infants born to mothers with persistent preconception mental health problems were categorised as high in emotional reactivity, compared to 23% born to mothers without preconception history (adjusted OR 2.1, 95% CI 1.4–3.1). Ante- and postnatal maternal depressive symptoms were similarly associated with infant emotional reactivity, but these perinatal associations reduced somewhat after adjustment for prior exposure. Causal mediation analysis further showed that 88% of the preconception risk was a direct effect, not mediated by perinatal exposure.
Maternal preconception mental health problems predict infant emotional reactivity, independently of maternal perinatal mental health; while associations between perinatal depressive symptoms and infant reactivity are partially explained by prior exposure. Findings suggest that processes shaping early vulnerability for later mental disorders arise well before conception. There is an emerging case for expanding developmental theories and trialling preventive interventions in the years before pregnancy.
Self-harm in young people is associated with later problems in social and emotional development. However, it is unknown whether self-harm in young women continues to be a marker of vulnerability on becoming a parent. This study prospectively describes the associations between pre-conception self-harm, maternal depressive symptoms and mother–infant bonding problems.
The Victorian Intergenerational Health Cohort Study (VIHCS) is a follow-up to the Victorian Adolescent Health Cohort Study (VAHCS) in Australia. Socio-demographic and health variables were assessed at 10 time-points (waves) from ages 14 to 35, including self-reported self-harm at waves 3–9. VIHCS enrolment began in 2006 (when participants were aged 28–29 years), by contacting VAHCS women every 6 months to identify pregnancies over a 7-year period. Perinatal depressive symptoms were assessed with the Edinburgh Postnatal Depression Scale during the third trimester, and 2 and 12 months postpartum. Mother–infant bonding problems were assessed with the Postpartum Bonding Questionnaire at 2 and 12 months postpartum.
Five hundred sixty-four pregnancies from 384 women were included. One in 10 women (9.7%) reported pre-conception self-harm. Women who reported self-harming in young adulthood (ages 20–29) reported higher levels of perinatal depressive symptoms and mother–infant bonding problems at all perinatal time points [perinatal depressive symptoms adjusted β = 5.40, 95% confidence interval (CI) 3.42–7.39; mother–infant bonding problems adjusted β = 7.51, 95% CI 3.09–11.92]. There was no evidence that self-harm in adolescence (ages 15–17) was associated with either perinatal outcome.
Self-harm during young adulthood may be an indicator of future vulnerability to perinatal mental health and mother–infant bonding problems.
Between May 2010 and September 2011, the University of Minnesota School of Public Health partnered with the Minnesota Department of Health (MDH) to assess the effect of exercises on team performance during public health emergency response.
Participants were divided into 3 research teams exposed to various levels of intervention. Groups consisted of a control group that was given standard MDH training exercises, a didactic group exposed to team dynamics and communication training, and a treatment group that received the didactic training in addition to a post-exercise facilitated debriefing. To assess differences in team performance, teams engaged in 15 functional exercises.
Differences in team performance across the 3 groups were identified, although there was no trend in team performance over time for any of the groups. Groups demonstrated fluctuation in team performance during the study period. Attitudinal surveys demonstrated an increase in workplace satisfaction and confidence in training among all groups throughout the study period.
Findings from this research support that a critical link exists between training type and team performance during public health emergency response. This research supports that intentional teamwork training for emergency response workers is essential for effective public health emergency response. (Disaster Med Public Health Preparedness. 2017;11:7–10)
All same-sex dizygotic (DZ) twins and approximately one-third of monozygotic (MZ) twin pairs have separate placentas, making it impossible to use the number of placentas to determine zygosity. Zygosity determination is further complicated because incorrect assumptions are often made, such as that only DZ pairs have two placentas and that all MZ pairs are phenotypically identical. These assumptions, by twins, their families and health professionals, along with the lack of universal zygosity testing for same-sex twins, has led to confusion within the twin community, yet little research has been conducted with twins about their understanding and assumptions about zygosity. We aimed to explore and quantify understanding and assumptions about zygosity using twins attending an Australian twin festival. We recruited 91 twin pairs younger than 18 years of age and their parents, and 30 adult twin pairs who were all uncertain of their zygosity, to complete one pen and paper questionnaire and one online questionnaire about their assumed zygosity, reasons for their assumptions and the importance of accurate zygosity knowledge. Responses were compared with their true zygosity measured using a genetic test. We found a substantial proportion of parents and twins had been misinformed by their own parents or medical professionals, and that knowledge of their true zygosity status provided peace of mind and positive emotional responses. For these reasons we propose universal zygosity testing of same-sex twins as early in life as possible and an increase in education of medical professionals, twins and families of twins about zygosity issues.
Current health policy assumes better quality services lead to better outcomes.
To investigate the relationship between quality of mental health rehabilitation services in England, local deprivation, service user characteristics and clinical outcomes.
Standardised tools were used to assess the quality of mental health rehabilitation units and service users' autonomy, quality of life, experiences of care and ratings of the therapeutic milieu. Multiple level modelling investigated relationships between service quality, service user characteristics and outcomes.
A total of 52/60 (87%) National Health Service trusts participated, comprising 133 units and 739 service users. All aspects of service quality were positively associated with service users' autonomy, experiences of care and therapeutic milieu, but there was no association with quality of life.
Quality of care is linked to better clinical outcomes in people with complex and longer-term mental health problems. Thus, investing in quality is likely to show real clinical gains.
The Peri/postnatal Epigenetic Twins Study (PETS) is a longitudinal cohort of 250 pairs of Australian twins and their mothers, who were recruited mid-way through pregnancy from January 2007 to September 2009. The study is centered on the developmental origins of health and disease paradigm (DOHaD) in which an adverse intrauterine environment predisposes the individual to complex disease in later life by reducing growth in utero and adversely altering developmental plasticity. Data concerning diet and lifestyle were collected from mothers during pregnancy, and samples of plasma and serum taken at 28 weeks’ gestation. We attended 75% of all births, at which time we collected multiple biological samples including placenta, cord blood, and neonatal cheek cells, the latter from 91% of pairs. Chorionicity was recorded and zygosity was determined by DNA testing where necessary. Approximately 40% of the twins are monozygotic, two-thirds of which are dichorionic. Twins were seen again at 18 months of age and repeat blood and cheek swabs taken where possible. Studies of gene expression and the epigenetic marks of DNA methylation have so far revealed that twins exhibit a wide range of epigenetic discordance at birth, that one-third of the epigenome changes significantly between birth and 18 months; shared (maternal) environment, genetic factors, and non-shared intrauterine environment contribute to an increasing proportion of epigenetic variation at birth, respectively, and affect tissues differently, and that within-pair birth weight discordance correlates with epigenetic discordance in genes associated with lipid metabolism, supporting an epigenetic mechanism for DOHaD.
Mental health service users are at high risk of domestic violence but
this is often not detected by mental health services.
To explore the facilitators and barriers to disclosure of domestic
violence from a service user and professional perspective.
A qualitative study in a socioeconomically deprived south London borough,
UK, with 18 mental health service users and 20 mental health
professionals. Purposive sampling of community mental health service
users and mental healthcare professionals was used to recruit
participants for individual interviews. Thematic analysis was used to
determine dominant and subthemes. These were transformed into conceptual
maps with accompanying illustrative quotations.
Service users described barriers to disclosure of domestic violence to
professionals including: fear of the consequences, including fear of
Social Services involvement and consequent child protection proceedings,
fear that disclosure would not be believed, and fear that disclosure
would lead to further violence; the hidden nature of the violence;
actions of the perpetrator; and feelings of shame. The main themes for
professionals concerned role boundaries, competency and confidence.
Service users and professionals reported that the medical diagnostic and
treatment model with its emphasis on symptoms could act as a barrier to
enquiry and disclosure. Both groups reported that enquiry and disclosure
were facilitated by a supportive and trusting relationship between the
individual and professional.
Mental health services are not currently conducive to the disclosure of
domestic violence. Training of professionals in how to address domestic
violence to increase their confidence and expertise is recommended.
Occasionally complex congenital cardiac disease presents for the first time in adulthood, encouraging us to reflect anew on our understanding of familiar conditions. A 59-year–old woman, who had had two normal pregnancies, attended with breathlessness and was found to have a double inlet left ventricle with concordant ventriculoarterial connections and a straddling tricuspid valve adherent to the malaligned ventricular septum.
The need to map women’s secure hospital services in terms of patient population and service needs over time is acknowledged given: the increase in forensic and medium secure beds nationally; and limited gender specific analysis in previous studies. Data is presented relating to 65 consecutive admissions (over a 6-year period) to a women’s medium secure unit at three (14-month) time periods. Trends noted in population statistics include a decline in special hospital referrals and an increased proportion of prison referrals with an index offence of arson in the past two years in association with a lower level of cognitive functioning, and a higher level of assaultative behaviour. In accord with the responsivity principle (Ogloff & Davis, 2004) the implications for treatment and service planning for this changing population are discussed.
The only microchiropteran endemic to the granitic Seychelles, the sheath-tailed bat Coleura seychellensis, is categorized as Critically Endangered on the IUCN Red List. Using bat detectors, the islands of Mahé, Praslin and La Digue were surveyed to establish the current distribution of this species. Although two new roosts were discovered on Mahé, no bats were observed on Praslin and La Digue, and the range of C. seychellensis appears to have further contracted in the last 2 decades. A total of 19 C. seychellensis were counted emerging from or entering three roosts in boulder caves on Mahé during 18 evenings of observations. The bats foraged in open coastal habitat, some of it anthropogenic, and their echolocation calls were also characteristic of bats feeding in open habitat. This study provides no evidence that C. seychellensis is dependent on forest or wetland for foraging. Dietary analysis indicated that C. seychellensis feeds on Coleoptera, Lepidoptera and Diptera. A public education programme to highlight the conservation status of the bat and the consequences of roost disturbance is recommended, together with the urgent need for legal protection of the bats and their roosts.
To determine the frequency of conjunctival colonization, identify the colonizing flora, and correlate culture results with physical findings in infants in a NICU
Level III NICU of a large university teaching hospital.
All infants admitted for longer than 24 hours during a 26-week period.
Weekly bacterial conjunctival cultures were performed for all infants. The conjunctival appearance at the time of culture was recorded. The frequency, identity, and correlation of culture results with physical findings were determined.
One thousand ninety-one cultures were performed for 319 infants: 133 (42%) had no positive cultures and 186 (58%) had at least one positive culture. Culture analysis revealed that 411 (38%) were positive and yielded 494 isolates comprising more than 18 bacterial species. Bacteria most commonly isolated included coagulase-negative Staphylococcus (CoNS) (75%), viridans group streptococci (8.7%), Staphylococcus aureus (3.8%), Enterococcus species (2.6%), and Serratia marcescens (2.4%). The frequency of non-CoNS isolates increased significantly during the first 6 weeks of patient hospital stay (6% [1 to 3 weeks] to 12% [4 to 6 weeks]; P = .01), with an increasing trend to 15 weeks (18%). Correlation of bacteriologic results with physical findings demonstrated that infants with non-CoNS isolates exhibited conjunctival edema, erythema, or exudates more frequently than did infants with CoNS alone (30% vs 13%; P = .0001).
Conjunctival colonization was common among infants in a NICU. Prolonged hospitalization predisposes to colonization with potentially pathogenic organisms. Physical findings were more likely in patients with non-CoNS conjunctival isolates.