Observation of Cleft Palate in an Individual with SOX11 Mutation: Indication of a Role for SOX11 in Human Palatogenesis.

Objective: Point mutations and deletions within the SOX11 gene have recently been described in individuals with a rare variant of Coffin-Siris syndrome, OMIM 615866, an intellectual disability syndrome with associated features of nail hypoplasia, microcephaly, and characteristic facial features including a wide mouth and prominent lips.

Participant: We describe a further patient with a mutation in SOX11 and phenotype resembling mild Coffin-Siris syndrome.

Results: This boy had a cleft palate, a feature not previously seen in other patients with SOX11 mutations.

Cognitive behavioural therapy in the treatment of chronic fatigue syndrome: A narrative review on efficacy and informed consent.

Cognitive behavioural therapy is increasingly promoted as a treatment for chronic fatigue syndrome. There is limited research on informed consent using cognitive behavioural therapy in chronic fatigue syndrome. We undertook a narrative review to explore efficacy and to identify the salient information that should be disclosed to patients.

Treatment Barriers and Support for Male Ex-Armed Forces Personnel in Prison: Professional and Service User Perspectives.

Ex-armed forces personnel represent a potentially vulnerable group within the prison population. To provide support to this group, we need to understand their needs and help-seeking behavior. A focus group with professionals and semi-structured interviews with service users explored perspectives of the treatment barriers faced by this group and their support needs.

Personal Accounts of Discontinuing Neuroleptic Medication for Psychosis.

We conducted this study to explore personal accounts of making choices about taking medication prescribed for the treatment of psychosis (neuroleptics). There are costs and benefits associated with continuing and discontinuing neuroleptics. Service users frequently discontinue neuroleptics; therefore, we specifically considered these decisions.

The anticipated and the lived experience of home and in-centre haemodialysis: Is there a disconnect?

This qualitative study aimed to explore home haemodialysis and in-centre haemodialysis patients' experience, to illuminate barriers and facilitators in the uptake and maintenance of home haemodialysis. Thirty-two semi-structured interviews with patients receiving home haemodialysis or in-centre haemodialysis were analysed using framework analysis. Four themes emerged: 'perceptions of self'; 'impact of haemodialysis on family'; 'perceived advantages and disadvantages of home haemodialysis and in-centre haemodialysis' and 'practical issues and negotiating haemodialysis'.

ADHD in the United Kingdom: Regional and Socioeconomic Variations in Incidence Rates Amongst Children and Adolescents (2004-2013).

Objective: To describe the incidence and distribution of ADHD within the United Kingdom, and to examine whether there was any association between ADHD incidence and socioeconomic deprivation.

Method: The study used data from the Clinical Practice Research Datalink (CPRD). Patients diagnosed with ADHD before the age of 19 between January 1, 2004 and December 31, 2013 were stratified according to the region in which their general practice was based.

Refraining from intrusive thoughts is strategy dependent: a comment on Sugiura, et al. And a preliminary informal test of detached mindfulness, acceptance, and other strategies.

The control of cognition is fundamental to psychological well being. One dimension recently explored by Sugiura, Sugiura and Tanno (2013) is the perceived ability to refrain from catastrophic thinking-a construct that could be a marker of several factors. The current paper recommends deeper consideration in terms of metacognitive theory and exemplifies this by testing the effect of a strategy that focuses on abstaining from processes (detached mindfulness) vs.

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.

Lymphocyte functions triggered by antigen recognition and co-stimulation signals are associated with a rapid and intense cell division, and hence with metabolism adaptation. The nucleotide cytidine 5' triphosphate (CTP) is a precursor required for the metabolism of DNA, RNA and phospholipids. CTP originates from two sources: a salvage pathway and a de novo synthesis pathway that depends on two enzymes, the CTP synthases (or synthetases) 1 and 2 (CTPS1 with CTPS2); the respective roles of these two enzymes are not known.

Empirical validation of viral quasispecies assembly algorithms: state-of-the-art and challenges.

Next generation sequencing (NGS) is superseding Sanger technology for analysing intra-host viral populations, in terms of genome length and resolution. We introduce two new empirical validation data sets and test the available viral population assembly software. Two intra-host viral population 'quasispecies' samples (type-1 human immunodeficiency and hepatitis C virus) were Sanger-sequenced, and plasmid clone mixtures at controlled proportions were shotgun-sequenced using Roche's 454 sequencing platform.

Models of mortality probability in severe traumatic brain injury: results of the modelling by the UK trauma registry.

Currently available prognostic models in Traumatic Brain Injury (TBI) are derived from historical data sets or from heterogeneous data sets, depending upon the trauma care delivered. The objective of our study was to develop models to predict survival in a recent cohort of TBI patients within a relatively homogeneous trauma care system. Records of patients with brain injury were extracted from the Trauma Audit and Research Network (TARN) database.