Relationships Between Maternal Perinatal Mood, Sex of Infant, and Disappointment with Sex of Infant in a North American Sample.

OBJECTIVES: Little is known about the relationships between sex of infant, disappointment with sex of infant, and risk for perinatal depression, particularly in societies where the nature of parental sex preference is thought to be "balanced" between male and female offspring. We sought to explore relationships between these variables in a North American population. METHODS: In this exploratory study, we used data from a large Canadian prospective longitudinal study in which data were collected at up to four timepoints: during pregnancy, and at 1 week, 1 month and 3 months postpartum. Data about sex of infant, maternal preference for, and disappointment in sex of infant were recorded at the first possible timepoint; while at each postpartum timepoint infant fussiness and EPDS scores were recorded. We performed a mixed-effects linear regression to evaluate relationships between these variables. RESULTS: In our sample of N = 207 women, EPDS scores were higher for mothers of male versus female infants, and independently associated with infant fussiness. There was no interaction between sex of infant and maternal disappointment, or between maternal disappointment and EPDS scores. CONCLUSIONS: Mothers of male infants may have slightly more depressive symptoms than mothers of female infants regardless of maternal preference for, or disappointment in sex of infant; sex-specific biological risk factors for PPD should be explored.

Emergency intubation in trauma in KwaZulu-Natal Province, South Africa.

BACKGROUND: Advanced airway management is a research priority in prehospital care. There is a high burden of major trauma in KwaZulu-Natal (KZN) Province, South Africa (SA), and transfer times to trauma units are often prolonged. OBJECTIVES: To examine emergency intubation practice in trauma and burns patients in Pietermaritzburg, KZN, and its environs. METHODS: This was a prospective consecutive case series, conducted from 11 May to 17 July 2016. Data were collected from urban emergency department (ED), rural hospital and roadside procedures in Pietermaritzburg and its drainage area. Patients with emergency intubation following trauma were eligible for inclusion. The primary outcome was successful airway management. Secondary outcomes included first-pass success and adverse events. RESULTS: Forty-one cases were recorded in patients aged 1 - 60 years. No instances of unsuccessful airway management were reported. Recorded first-pass intubation success rates were higher in receiving EDs than rural hospitals (19/22 v. 2/7; p=0.003). Use of a formal preintubation checklist was associated with a higher first-pass success rate (21/23 v. 6/15; p=0.001) and fewer adverse events (0/23 v. 7/16; p<0.001). Identified adverse event rates were 1/22 (EDs), 5/8 (rural hospitals) and 2/9 (roadside). Unmedicated intubation was more common in rural hospitals than EDs (3/8 v. 1/22; p=0.019), despite absence of cardiac arrest in these cases. Minimum standards of anaesthetic monitoring were not consistently met in any setting. CONCLUSIONS: The use of a preprocedural checklist was associated with improved intubation outcomes and may improve practice in SA trauma care and the prehospital environment, including in rural hospitals. Standardised rapid sequence induction protocols, routine use of introducers and end-tidal carbon dioxide monitoring, and increased availability of intraosseous devices also merit consideration. Key performance indicators should be monitored routinely.

Risk communication in genetic counseling: Exploring uptake and perception of recurrence numbers, and their impact on patient outcomes.

Providing recurrence numbers is often considered a fundamental component of genetic counseling. We sought to fill knowledge gaps regarding how often patients actively seek recurrence numbers, and how they impact patient outcomes. We conducted a retrospective chart review at a clinic where patients routinely complete the Genetic Counseling Outcomes Scale (GCOS, measuring empowerment) pre (T1)/post (T2) appointment. Using analysis of covariance, we evaluated the effect on T2 GCOS score of: (1) receiving recurrence numbers and (2) patient perception of recurrence numbers. Recurrence numbers were a primary indication for 134/300 patients (45%). After counseling about etiology and risk-reducing strategies, 116 patients (39%) opted to receive recurrence numbers, with most (n = 64, 55%) perceiving the number to be lower than expected. There was no difference in T2 GCOS scores between those who: (1) received recurrence numbers vs those who did not, or (2) perceived the number to be lower than expected vs those with other perceptions. However, a subset of patients who did not receive recurrence numbers had larger increases in GCOS scores. Our data provide impetus to question the assumption that recurrence numbers should be routinely provided in genetic counseling, and show that in naturalistic practice, optimal patient outcomes are not contingent on receipt of recurrence numbers.

Self-Stigma in Relatives of people with Mental Illness scale: development and validation.

BACKGROUND: Serious mental illness (SMI) is profoundly stigmatised, such that there is even an impact on relatives of people with SMI. Aims To develop and validate a scale to comprehensively measure self-stigma among first-degree relatives of individuals with SMI. METHOD: We conducted group interviews focusing on self-stigma with first-degree relatives (n = 20) of people with SMI, from which 74 representative quotations were reframed as Likert-type items. Cognitive interviews with relatives (n = 11) identified 30 items for the Self-Stigma in Relatives of people with Mental Illness (SSRMI) scale. Relatives (n = 195) completed the scale twice, a month apart, together with four external correlate scales. RESULTS: The 30-item SSRMI was reliable, with scores stable over time. Its single-factor structure allowed generation of a 10-item version. Construct validity of 30- and 10-item versions was supported by expected relationships with external correlates. CONCLUSIONS: Both versions of the SSRMI scale are valid and reliable instruments appropriate for use in clinical and research contexts. Declaration of interest None.

Patient outcomes of genetic counseling: Assessing the impact of different approaches to family history collection.

No studies have yet evaluated whether different modalities for the collection of family history data influence patient outcomes of genetic counseling. We retrospectively compared outcomes of genetic counseling between patients whose family history (Fhx) was collected (1) via telephone prior to their appointment (FhxPrior) or (2) during the appointment (FhxDuring). We used a psychiatric genetic counseling clinic database, where information about demographics and Fhx timing is recorded, and patients complete the Genetic Counseling Outcomes Scale (GCOS, measuring empowerment) and Illness Management Self-Efficacy Scale (IMSES) immediately prior to (T1) and 1 month after their appointment (T2). We used ANCOVA to evaluate the effect of the Fhx method on patient outcomes at T2. Complete data were available for 240 patients and were used for analysis (FhxPrior, n = 206; FhxDuring, n = 34). GCOS and IMSES scores increased from T1 to T2 (P < .0005 and P = .004, respectively). Although there was no difference between groups for GCOS (P = .412), T2 IMSES scores were significantly higher for FhxPrior than FhxDuring after controlling for T1 scores (P = .011). Our data suggest that obtaining Fhx via telephone prior to genetic counseling may lead to greater increases in patients' self-efficacy as compared to obtaining Fhx during the genetic counseling appointment.

Evaluating a unique, specialist psychiatric genetic counseling clinic: uptake and impact.

People with psychiatric disorders and their family members have expressed interest in receiving genetic counseling (GC). In February 2012, we opened the first (to our knowledge) specialist psychiatric GC clinic of its kind, for individuals with non-syndromic psychiatric disorders and their families. Prior to GC and at a standard 1-month follow-up session, clinical assessment tools are completed, specifically, the GC outcomes scale (GCOS, which measures empowerment, completed by all clients) and the Illness Management Self Efficacy scale (IMSES, completed by those with mental illness). Consecutive English-speaking clients attending the clinic between 1 February 2012 and 31 January 2013 who were capable of consenting were asked for permission to use their de-identified clinical data for research purposes. Descriptive analyses were conducted to ascertain demographic details of attendees, and paired sample t-tests were conducted to assess changes in GCOS and IMSES scores from pre- to post-GC. Of 143 clients, seven were unable to consent, and 75/136 (55.1%) consented. Most were female (85.3%), self-referred (76%), and had personal experience of mental illness (65.3%). Mean GCOS and IMSES scores increased significantly after GC (p < 0.0001 and p = 0.011, respectively). In a naturalistic setting, GC increases empowerment and self-efficacy in this population.

Una ‘curación’ para el síndrome de Down: ¿qué desean los padres? / No disponible

Los recientes avances en la genética molecular brindan la posibilidad de llegar a disponer de una terapéutica o una ‘curación’ para el síndrome de Down. Pero no disponemos de datos sobre cómo perciben los padres de niños con síndrome de Down la posibilidad de suavizar manifestaciones específicas, como es la discapacidad intelectual, o de curar por completo el síndrome. Para explorar estos temas, distribuimos un cuestionario a miembros de la Lower Mainlands Down Syndrome Society en British Columbia, Canadá. Los cuestionarios fueron completados por 101 padres (tasa de respuesta: 41%). La mayoría (61%) vieron positivamente la posibilidad de revertir la discapacidad intelectual en el síndrome de Down, pero sólo el 41% dijeron que ‘curarían’ a su hijo si fuera posible. El 27% dijeron que no ‘curarían’, y el 32% no estaba seguro si lo harían. La motivación más frecuentemente citada para optar por una ‘curación’ fue la de aumentar la independencia del hijo. Sin embargo, la actitudes de los padres hacia una ‘curación’ del síndrome de Down fueron complejas, afectadas por temas éticos, por los valores percibidos en la sociedad y por factores pragmáticos como fueron la edad del individuo y el peso de la carga de la atención a largo plazo. Estos resultados ponen de manifiesto la importancia de explorar cuestiones filosóficas y éticas, en paralelo con la investigación científica que está avanzando tan rápidamente

No disponible

A 'cure' for Down syndrome: what do parents want?

Recent advancements in molecular genetics raise the possibility that therapeutics or a 'cure' for Down syndrome (DS) may become available. However, there are no data regarding how parents of children with DS perceive the possibility of mitigating specific manifestations such as the intellectual disability (ID) associated with DS, or curing the condition entirely. To explore these issues, we distributed a questionnaire to members of the Lower Mainland Down Syndrome Society in British Columbia, Canada. Questionnaires were completed by 101 parents (response rate=41%). A majority (61%) viewed the possibility of reversing ID in DS positively, but only 41% said that they would 'cure' their child of DS if it were possible. Twenty-seven percent of respondents said they would not 'cure' their child, and 32% were unsure if they would 'cure' their child. The most commonly cited motivation for opting for a 'cure' was to increase their child's independence. However, parental attitudes' towards a 'cure' for DS were complex, affected by ethical issues, perceived societal values, and pragmatic factors such as the age of the individual and long-term care-giving burden. These findings could be used by healthcare professionals supporting families who include a member with DS and to direct future research.

Error reduction therapy in reducing struggle and grope behaviours in apraxia of speech.

We report an intervention study focused on the speech production difficulties present in acquired apraxia of speech (AOS). The intervention was a self-administered computer therapy that targeted whole word production and incorporated error reduction strategies. The effectiveness of the therapy was contrasted to that of a visuospatial sham computer program, and performance across treated words, and two sets of matched words, was assessed. Two groups of participants completed the study which employed a two-phase cross-over treatment design. Participants were randomly assigned to a speech first or sham first condition. Treatments were administered for six weeks, with a four week rest between interventions. Participants were assessed five times in total; twice at baseline, once following each of the intervention phases, and once following a lapse of eight weeks after the end of the second phase of intervention. The occurrence of accurate word production and speech characterised by struggle and groping behaviours was recorded on a repetition task. Participants showed significant gains in speech accuracy and fluency, and reductions in articulatory groping and struggle behaviours following the use of the speech program. These gains were largely maintained once the therapy was withdrawn.

Hazards of ultra-marathon running in the Scottish Highlands: exercise-associated hyponatraemia.

The case histories are presented of four athletes taking part in a 95-mile ultra-endurance foot race in Scotland who were hospitalised after developing exercise-associated hyponatraemia and rhabdomyolysis. Exercise-associated hyponatraemia is relatively uncommon in temperate climates. Risk factors disposing to this disorder are discussed. Exercise-associated hyponatraemia is thought to be due to overconsumption of hypotonic fluid with other associated pathophysiology including an inability to suppress fully antidiuretic hormone during exercise or to mobilise adequate sodium from osmotically inactive internal stores. Non-specific symptoms make this disorder difficult to diagnose on site without the assistance of serum sodium measurement, but any delay in treatment of patients with encephalopathy can prove fatal. Mainstays of treatment include fluid restriction, hypertonic saline, loop diuretics and mannitol.

Age-related reduction in microcolumnar structure correlates with cognitive decline in ventral but not dorsal area 46 of the rhesus monkey.

The age-related decline in cognitive function that is observed in normal aging monkeys and humans occurs without significant loss of cortical neurons. This suggests that cognitive impairment results from subtle, sub-lethal changes in the cortex. Recently, changes in the structural coherence in mini- or microcolumns without loss of neurons have been linked to loss of function. Here we use a density map method to quantify microcolumnar structure in both banks of the sulcus principalis (prefrontal cortical area 46) of 16 (ventral) and 19 (dorsal) behaviorally tested female rhesus monkeys from 6 to 33 years of age. While total neuronal density does not change with age in either of these banks, there is a significant age-related reduction in the strength of microcolumns in both regions on the order of 40%. This likely reflects a subtle but definite loss of organization in the structure of the cortical microcolumn. The reduction in strength in ventral area 46 correlates with cognitive impairments in learning and memory while the reduction in dorsal area 46 does not. This result is congruent with published data attributing cognitive functions to ventral area 46 that are similar to our particular cognitive battery which does not optimally tap cognitive functions attributed to dorsal area 46. While the exact mechanisms underlying this loss of microcolumnar organization remain to be determined, it is plausible that they reflect age-related alterations in dendritic and/or axonal organization which alter connectivity and may contribute to age-related declines in cognitive performance.

Automated identification of neurons and their locations.

Individual locations of many neuronal cell bodies (>10(4)) are needed to enable statistically significant measurements of spatial organization within the brain such as nearest-neighbour and microcolumnarity measurements. In this paper, we introduce an Automated Neuron Recognition Algorithm (ANRA) which obtains the (x, y) location of individual neurons within digitized images of Nissl-stained, 30 microm thick, frozen sections of the cerebral cortex of the Rhesus monkey. Identification of neurons within such Nissl-stained sections is inherently difficult due to the variability in neuron staining, the overlap of neurons, the presence of partial or damaged neurons at tissue surfaces, and the presence of non-neuron objects, such as glial cells, blood vessels, and random artefacts. To overcome these challenges and identify neurons, ANRA applies a combination of image segmentation and machine learning. The steps involve active contour segmentation to find outlines of potential neuron cell bodies followed by artificial neural network training using the segmentation properties (size, optical density, gyration, etc.) to distinguish between neuron and non-neuron segmentations. ANRA positively identifies 86 +/- 5% neurons with 15 +/- 8% error (mean +/- SD) on a wide range of Nissl-stained images, whereas semi-automatic methods obtain 80 +/- 7%/17 +/- 12%. A further advantage of ANRA is that it affords an unlimited increase in speed from semi-automatic methods, and is computationally efficient, with the ability to recognize approximately 100 neurons per minute using a standard personal computer. ANRA is amenable to analysis of huge photo-montages of Nissl-stained tissue, thereby opening the door to fast, efficient and quantitative analysis of vast stores of archival material that exist in laboratories and research collections around the world.

Measuring food access in Melbourne: access to healthy and fast foods by car, bus and foot in an urban municipality in Melbourne.

Access to healthy food can be an important determinant of a healthy diet. This paper describes the assessment of access to healthy and unhealthy foods using a GIS accessibility programme in a large outer municipality of Melbourne. Access to a major supermarket was used as a proxy for access to a healthy diet and fast food outlet as proxy for access to unhealthy food. Our results indicated that most (>80%) residents lived within an 8-10 min car journey of a major supermarket i.e. have good access to a healthy diet. However, more advantaged areas had closer access to supermarkets, conversely less advantaged areas had closer access to fast food outlets. These findings have application for urban planners, public health practitioners and policy makers.

Back pain as the presenting symptom of generalised tetanus.

Back pain is a common presenting symptom in emergency departments and primary care across the UK. The extensive differential diagnosis includes mechanical, infective, thoracic, abdominal and vascular causes. This case report describes a patient who presented with lower back pain with a rare diagnosis, which is becoming more common in certain population groups, and emphasises the importance of clinical skills and insuring adequate tetanus prophylaxis.

A rural emergency medical retrieval service: the first year.

INTRODUCTION: We describe the first year of operation of a rural emergency medical retrieval service (EMRS), staffed by emergency medicine and anaesthetic consultants and providing air based retrieval of critically ill and injured patients from general practitioner led community hospitals in rural west Scotland. METHODS: Data were collected on all patients referred to the service, both those subsequently transported and those where transport by the service was not indicated, for a period of 1 year from 1 October 2004 to 30 September 2005. Data collected included information on demographics, physiology, and medical interventions. Detailed data were collected regarding advanced airway care and any complications relating to transfer. RESULTS: Forty patients were attended and advice was given on a further 21 patients. Twenty one of the 40 patients (53%) required rapid sequence intubation prior to transfer. The median Injury Severity Score (ISS) for trauma patients was 26 (range 2-59). The median Acute Physiology and Chronic Health Evaluation (APACHE) II score for all patients was 11 (range 2-37). CONCLUSION: Our data show a high level of acuity among this patient group and a need for advanced medical intervention to ensure safe transfer.

Early pulmonary infection, inflammation, and clinical outcomes in infants with cystic fibrosis.

A thorough understanding of the early natural history of cystic fibrosis (CF) lung disease is critical for the development of effective interventions in the youngest patients. We assessed the evolution of pulmonary infection, inflammation, and clinical course among 40 infants over a 2-year period through annual bronchoalveolar lavage (BAL) for culture and measurements of pro- and anti-inflammatory cytokines, semiannual infant pulmonary function testing, and quarterly clinical evaluations. Both the prevalence of CF pathogens and their density in BAL fluid increased with age. Infants had neutrophilic lower airway inflammation and elevated IL-8 concentrations independent of whether CF pathogens were recovered. Total leukocyte and neutrophil densities and IL-8 concentrations increased with density of CF pathogens in BAL fluid, whether the isolated organism was P. aeruginosa or another pathogen. IL-10 concentrations were similar in CF subjects and non-CF historical controls. Infants generally had suboptimal growth (low weight and height percentiles) and obstructive lung disease (decreased expiratory flows and air trapping). Subjects from whom CF pathogens were isolated at > 10(5) cfu/mL had the worst air trapping and lowest Brasfield chest X-ray scores. Our findings provide a foundation for future studies of early intervention in CF lung disease, including antimicrobial and anti-inflammatory therapy.