Deliberate practice for achieving and maintaining expertise in anesthesiology.

For the dedicated anesthesiologist, a high level of expertise is needed to deliver good care to patients and to provide excellent service to surgeons, anesthesia colleagues, and others. Expertise helps the anesthesiologist recover from difficult situations and generally makes the practice run more effectively. Expertise also contributes to quality of life through higher self-esteem and long-term career satisfaction.

Gonadotrope-specific deletion of Dicer results in severely suppressed gonadotropins and fertility defects.

Pituitary gonadotropins follicle-stimulating hormone and luteinizing hormone are heterodimeric glycoproteins expressed in gonadotropes. They act on gonads and promote their development and functions including steroidogenesis and gametogenesis. Although transcriptional regulation of gonadotropin subunits has been well studied, the post-transcriptional regulation of gonadotropin subunits is not well understood.

Mothers' expressed emotion towards children with autism spectrum disorder and their siblings.

Background: Expressed emotion (EE) is a construct used to measure the emotional climate within families. EE is of interest to researchers in the field of autism spectrum disorder (ASD) because of its putative implications for child development. The aim was to explore whether maternal EE differs towards a child with ASD and a non-disabled sibling.

Embolic myocardial infarction in a patient with a Fontan circulation.

Coronary artery embolism is an uncommon cause of acute myocardial infarction (MI). We present a patient with pulmonary atresia and severe right heart hypoplasia who underwent a lateral tunnel Fontan procedure in childhood and presented with an acute ST-segment elevation MI at 19 years of age. In addition to the known risk of thrombotic complications associated with a Fontan circulation, potential predisposing factors to thromboembolism in this patient included a right ventricle to left anterior descending coronary connection and a Fontan baffle leak.

Paraprofessional-delivered home-visiting intervention for American Indian teen mothers and children: 3-year outcomes from a randomized controlled trial.

Objective: The Affordable Care Act provides funding for home-visiting programs to reduce health care disparities, despite limited evidence that existing programs can overcome implementation and evaluation challenges with at-risk populations. The authors report 36-month outcomes of the paraprofessional-delivered Family Spirit home-visiting intervention for American Indian teen mothers and children.

Method: Expectant American Indian teens (N=322, mean age=18.

Self-administered sample collection for screening of sexually transmitted infection among reservation-based American Indian youth.

American Indians suffer a disproportionate burden of sexually transmitted infection, particularly adolescents. Screening access barriers in rural and reservation-based communities necessitate alternatives to clinic-based options. Self-administered screening for three sexually transmitted infections was piloted among 32 American Indian adolescents aged 18 to 19.

Parenting and the behavior problems of young children with an intellectual disability: concurrent and longitudinal relationships in a population-based study.

We examined parenting behaviors, and their association with concurrent and later child behavior problems. Children with an intellectual disability (ID) were identified from a UK birth cohort (N  =  516 at age 5). Compared to parents of children without an ID, parents of children with an ID used discipline less frequently, but reported a more negative relationship with their child.

Systematic review of epilepsy self-management interventions integrated with a synthesis of children and young people's views and experiences.

Aim: To determine the effectiveness of epilepsy self-management interventions and explore the views and experiences of medication and seizures by children and young people.

Background: Experiencing seizures and side-effects from anti-epileptic medicines have negative impacts on children and young people managing their epilepsy. Children commonly experiment with not taking epilepsy medication as prescribed and engage in unhealthy lifestyles.

Perceptions of positive contributions and burnout in community developmental disability workers.

Research on staff supporting individuals with intellectual and developmental disabilities (IDD) tends to focus on negative aspects of the work. This study expanded on previous research on the positive consequences that work in the IDD field has on staff using a brief version of the Staff Positive Contributions Questionnaire with 926 staff. Factor analysis suggested two factors: General positive contributions and Positive work motivation.

A preliminary controlled trial of a trans-diagnostic programme for cognitive behaviour therapy with adults with intellectual disability.

Background: Several studies have found a heightened prevalence of mental health disorders in people with intellectual disabilities (ID). There have been a number of successful case series and two promising controlled treatment trials of cognitive behaviour therapy (CBT) for emotional disorders (excluding anger) for people with ID. Several authors have promoted the development of trans-diagnostic approaches to cognitive treatment.

'Keep fit' exercise interventions to improve health, fitness and well-being of children and young people who use wheelchairs: mixed-method systematic review protocol.

Aim: This mixed-method systematic review aims to establish the current evidence base for 'keep fit', exercise or physical activity interventions for children and young people who use wheelchairs.

Background: Nurses have a vital health promotion, motivational and monitoring role in optimizing the health and well-being of disabled children. Children with mobility impairments are prone to have low participation levels in physical activity, which reduces fitness and well-being.

11-trifluoromethyl-phenyldiazirinyl neurosteroid analogues: potent general anesthetics and photolabeling reagents for GABAA receptors.

Rationale: While neurosteroids are well-described positive allosteric modulators of gamma-aminobutyric acid type A (GABAA) receptors, the binding sites that mediate these actions have not been definitively identified.

Objectives: This study was conducted to synthesize neurosteroid analogue photolabeling reagents that closely mimic the biological effects of endogenous neurosteroids and have photochemical properties that will facilitate their use as tools for identifying the binding sites for neurosteroids on GABAA receptors.

Results: Two neurosteroid analogues containing a trifluromethyl-phenyldiazirine group linked to the steroid C11 position were synthesized.

Child behavior problems and parental well-being in families of children with autism: the mediating role of mindfulness and acceptance.

Few research studies have explored how the level of a child's behavior problems leads to psychological distress in parents of children with autism. The authors explored whether psychological acceptance and mindfulness mediated this relationship between child behavior and parental distress. Seventy-one mothers and 39 fathers of children with autism participated, by reporting on their own positive and negative psychological well-being and their child's behavior problems.

Comprehensive laboratory evaluation of a specific lateral flow assay for the presumptive identification of abrin in suspicious white powders and environmental samples.

Abrin is a heterodimeric toxin present in the seeds of the Abrus precatorius plant. The easily obtainable seeds can yield a highly toxic product that can be used in various types of biocrimes and terrorism-related activities, including "white-powder" letters. Although the vast majority of these threats are hoaxes, the lack of rapid and reliable detection assays for abrin, such as lateral flow assays (LFAs), can be an impediment to accurate and rapid hazard assessment.

Self-reported behaviour problems and sibling relationship quality by siblings of children with autism spectrum disorder.

Background: There are few published research studies in which siblings of children with autism spectrum disorder (ASD) provide self-reports about their own behavioural and emotional problems and their sibling relationships. Reliance on parent reports may lead to incomplete conclusions about the experiences of siblings themselves.

Methods: Siblings 7-17 years and their mothers from 94 families of children with ASD were recruited.

Paediatric palliative care: development and pilot study of a 'Directory' of life-limiting conditions.

Background: Children's palliative care services are developing. Rational service development requires sound epidemiological data that are difficult to obtain owing to ambiguity in the definitions both of the population who needs palliative care and of palliative care itself. Existing definitions are of trajectory archetypes.

Comprehensive laboratory evaluation of a highly specific lateral flow assay for the presumptive identification of ricin in suspicious white powders and environmental samples.

Ricin, a heterodimeric toxin that is present in the seeds of the Ricinus communis plant, is the biothreat agent most frequently encountered by law enforcement agencies in the United States. Even in untrained hands, the easily obtainable seeds can yield a highly toxic product that has been used in various types of threats, including "white-powder" letters. Although the vast majority of these threats are hoaxes, an impediment to accurate hazard assessments by first responders is the unreliability of rapid detection assays for ricin, such as lateral flow assays (LFAs).

GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies.

To facilitate broad and convenient integrative visualization of and access to GWAS data, we have created the GWAS Central resource (http://www.gwascentral.org).

Fathers' and mothers' ratings of behavioral and emotional problems in siblings of children with autism spectrum disorder.

Debate is ongoing about whether typically developing siblings of children with autism spectrum disorder (ASD) are at greater risk of behavioral or emotional problems than siblings of children without ASD. Most data on behavior is provided by mothers, and we do not know whether fathers' reports differ. The strengths and difficulties questionnaire (Goodman in J Child Psychol Psychiatry 38(5):581-586, 1997) was completed by 168 mothers and 130 fathers.

'He's hard work, but he's worth it'. The experience of caregivers of individuals with intellectual disabilities and challenging behaviour: a meta-synthesis of qualitative research.

Background: The purpose of this review is to synthesize the qualitative literature on the perspectives of those caring for a family member with intellectual disabilities and challenging behaviour, with a focus on their experiences of support services.

Materials And Methods: A thorough literature search resulted in 17 studies being selected for inclusion in the meta-synthesis.

Results: Five primary themes were identified: (i) love, (ii) altered identity, (iii) crisis management, (iv) support is not just 'challenging behaviour' services, and (v) the future: low expectations, high hopes.

Running to catch up: rapid generation of evidence for interventions in learning disability services.

Few high-quality trials have been conducted in intellectual disability mental health. Trials such as Willner et al's have a 'close-to-market' focus. I argue that rapid generation of evidence for individuals with intellectual disability is the priority, alongside a new research focus on mental health in those with severe intellectual disability.

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.

Many neurological conditions are caused by immensely heterogeneous gene mutations. The diagnostic process is often long and complex with most patients undergoing multiple invasive and costly investigations without ever reaching a conclusive molecular diagnosis. The advent of massively parallel, next-generation sequencing promises to revolutionize genetic testing and shorten the 'diagnostic odyssey' for many of these patients.

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report should therefore provide a clear, concise, accurate, fully interpretative and authoritative answer to the clinical question.