Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi.

Background: Genotype-phenotype studies can identify subgroups of patients with specific clinical features or differing outcomes, which can help shape management.

Objectives: To characterize the frequency of different causative genotypes in congenital melanocytic naevi (CMN), and to investigate genotype-phenotype and genotype-outcome associations.

Methods: We conducted a large cohort study in which we undertook MC1R genotyping from blood, and high-sensitivity genotyping of NRAS and BRAF hotspots in 156 naevus biopsies from 134 patients with CMN [male 40%; multiple CMN 76%; projected adult size (PAS) > 20 cm, 59%].

Syndromic Craniosynostosis: Complexities of Clinical Care.

Patients with syndromic craniosynostosis have a molecularly identified genetic cause for the premature closure of their cranial sutures and associated facial and extra-cranial features. Their clinical complexity demands comprehensive management by an extensive multidisciplinary team. This review aims to marry genotypic and phenotypic knowledge with clinical presentation and management of the craniofacial syndromes presenting most frequently to the craniofacial unit at Great Ormond Street Hospital for Children NHS Foundation Trust.

Factor VIII: Long-established role in haemophilia A and emerging evidence beyond haemostasis.

Factor VIII protein (FVIII) as a coagulation replacement factor has for decades been used as the standard of care for management of people with haemophilia A. It is effective for treatment of bleeding events, as prophylaxis to prevent bleeding events and preserve joint function, and to support surgery in people with haemophilia A. Despite long experience in treating haemophilia A, we are only beginning to understand the functions of FVIII beyond its established role as a coenzyme to factor IXa to expedite thrombin generation through the intrinsic pathway of coagulation.

Optimization of the Split-Spinach Aptamer for Monitoring Nanoparticle Assembly Involving Multiple Contiguous RNAs.

The fact that structural RNA motifs can direct RNAs to fold and self-assemble into predictable pre-defined structures is an attractive quality and driving force for RNA's use in nanotechnology. RNA's recognized diversity concerning cellular and synthetically selected functionalities, however, help explain why it continues to draw attention for new nano-applications. Herein, we report the modification of a bifurcated reporter system based on the previously documented Spinach aptamer/DFHBI fluorophore pair that affords the ability to confirm the assembly of contiguous RNA strands within the context of the previously reported multi-stranded RNA nanoring.

Liver and muscle glycogen oxidation and performance with dose variation of glucose-fructose ingestion during prolonged (3 h) exercise.

Purpose: This study investigated the effect of small manipulations in carbohydrate (CHO) dose on exogenous and endogenous (liver and muscle) fuel selection during exercise.

Method: Eleven trained males cycled in a double-blind randomised order on 4 occasions at 60% [Formula: see text] for 3 h, followed by a 30-min time-trial whilst ingesting either 80 g h or 90 g h or 100 g hC-glucose-C-fructose [2:1] or placebo. CHO doses met, were marginally lower, or above previously reported intestinal saturation for glucose-fructose (90 g h).

The effects of environmental hypoxia on substrate utilisation during exercise: a meta-analysis.

Background: A better understanding of hypoxia-induced changes in substrate utilisation can facilitate the development of nutritional strategies for mountaineers, military personnel and athletes during exposure to altitude. However, reported metabolic responses are currently divergent. As such, this systematic review and meta-analysis aims to determine the changes in substrate utilisation during exercise in hypoxia compared with normoxia and identify study characteristics responsible for the heterogeneity in findings.

Challenges and supports towards the integration of ePortfolios in education. Lessons to be learned from Ireland.

This paper reports on research derived from a one-year study on the integration of ePortfolios in education using Ireland as a case example. Through a series of interviews with school principals, teachers and members of the support service of the Department of Education and Skills in Ireland, this research explores the opportunities and challenges relating to the use of ePortfolios in Irish post-primary education. Evidence suggests that, whilst supports for the integration of ePortfolios are beginning to emerge, there are many unresolved issues.

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Mutations in the ERF gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors cause a recently recognized syndromic form of craniosynostosis (CRS4) with facial dysmorphism, Chiari-1 malformation, speech and language delay, and learning difficulties and/or behavioral problems. The overall prevalence of ERF mutations in patients with syndromic craniosynostosis is around 2%, and 0.7% in clinically nonsyndromic craniosynostosis.

Diptera of Canada.

The Canadian Diptera fauna is updated. Numbers of species currently known from Canada, total Barcode Index Numbers (BINs), and estimated numbers of undescribed or unrecorded species are provided for each family. An overview of recent changes in the systematics and Canadian faunistics of major groups is provided as well as some general information on biology and life history.

The turricephaly index: A validated method for recording turricephaly and its natural history in Apert syndrome.

Introduction: We present the CT scan-derived turricephaly index (TI) as a quotient of the maximal occipito-frontal length of the skull to the distance from the centre of the sella to the highest point on the vertex as a validated tool for assessing turricephaly and evaluating surgical techniques aimed at reducing it.

Materials And Methods: Measurements taken from CTs of non-operated children with Apert syndrome and age-matched controls were analysed using Centricity PACS system (from the lateral scout image) and the thick-sliced Osirix tool. CTs from non-operated children with Apert syndrome were used to investigate the natural history of their turricephaly both as a group and individually.

Lack of association of cranial lacunae with intracranial hypertension in children with Crouzon syndrome and Apert syndrome: a 3D morphometric quantitative analysis.

Purpose: Cranial lacunae (foci of attenuated calvarial bone) are CT equivalents of "copper beating" seen on plain skull radiographs in children with craniosynostosis. The qualitative presence of copper beating has not been found to be useful for the diagnosis of intracranial hypertension (IH) in these patients. 3D morphometric analysis (3DMA) allows a more systematic and quantitative assessment of calvarial attenuation.

Molecular phylogeny and evolution of world Tachinidae (Diptera).

We reconstructed phylogenetic relationships within the diverse parasitoid fly family Tachinidae using four nuclear loci (7800 bp) and including an exceptionally large sample of more than 500 taxa from around the world. The position of the earthworm-parasitizing Polleniinae (Calliphoridae s.l.

Inhibitor clinical burden of disease: a comparative analysis of the CHESS data.

Background: Patients with hemophilia and inhibitors generally face greater disease burden compared to patients without inhibitors. While raising awareness of relative burden may improve the standard of care for patients with inhibitors, comparative data are sparse. Analyzing data drawn from the Cost of Haemophilia across Europe - a Socioeconomic Survey (CHESS) study, the aim of this study was to compare the clinical burden of disease in patients with severe hemophilia with and without inhibitors.

"Change is what can actually make the tough times better": A patient-centred patient safety intervention delivered in collaboration with hospital volunteers.

Background: The PRASE (Patient Reporting and Action for a Safe Environment) intervention provides a way to systematically collect patient feedback to support service improvement. To provide a sustainable mechanism for the PRASE intervention, a 2-year improvement project explored the potential for hospital volunteers to facilitate the collection of PRASE feedback.

Objective: To explore the implementation of the PRASE intervention delivered in collaboration with hospital volunteers from the perspectives of key stakeholders.

Development of a New Patient-reported Outcome Measure for Ear Conditions: The EAR-Q.

Background: Patient-reported outcome measures are widely used to improve health services and patient outcomes. The aim of our study was to describe the development of 2 ear-specific scales designed to measure outcomes important to children and young adults with ear conditions, such as microtia and prominent ears.

Methods: We used an interpretive description qualitative approach.

Partners at Care Transitions: exploring healthcare professionals' perspectives of excellence at care transitions for older people.

Introduction: Hospital admissions are shorter than they were 10 years ago. Notwithstanding the benefits of this, patients often leave hospital requiring ongoing care. The transition period can therefore be risky, particularly for older people with complex health and social care needs.

Service user and carer involvement in mental health care safety: raising concerns and improving the safety of services.

Background: Previous research into improving patient safety has emphasised the importance of responding to and learning from concerns raised by service users and carers. Expertise gained by the experiences of service users and their carers has also been seen as a potential resource to improve patient safety. We know little about the ease of raising concerns within mental health services, and the potential benefits of involving service users and carers in safety interventions.

Intracranial Volume and Head Circumference in Children with Unoperated Syndromic Craniosynostosis.

Background: When analyzing intracranial volume gain resulting from operative intervention in craniosynostosis, it is necessary to understand the underlying growth. The authors sought to create comprehensive intracranial volume and occipitofrontal circumference growth charts, as measured on unoperated craniosynostotic children, and aimed to investigate whether intracranial volume and occipitofrontal circumference could act as proxy measures for each other.

Methods: All preoperative Great Ormond Street Hospital patients with a diagnosis of Apert, Crouzon-Pfeiffer, or Saethre-Chotzen syndrome from the year 2004 onward were considered for this study.

Real-world comparative analysis of bleeding complications and health-related quality of life in patients with haemophilia A and haemophilia B.

Introduction: Clinical severity and impact of haemophilia on quality of life have been generally considered to be lower for haemophilia B (HB) compared with haemophilia A (HA) patients.

Aims: To compare annual bleeding rate (ABR), target joint development and health-related quality of life (HRQoL) between adult (≥18 years) severe HA and HB patients using recent data from the Cost of Haemophilia in Europe: a Socioeconomic Survey (CHESS) study.

Methods: Multivariate generalized linear models (GLM) were constructed to assess the relationship between haemophilia type, ABR, HRQoL (derived from EQ-5D index scores) and the presence of target joints while controlling for covariates.

Barriers to Breast Cancer Screening among Diverse Cultural Groups in Melbourne, Australia.

This study explored the association between health literacy, barriers to breast cancer screening, and breast screening participation for women from culturally and linguistically diverse (CALD) backgrounds. English-, Arabic- and Italian-speaking women ( = 317) between the ages of 50 to 74 in North West Melbourne, Australia were recruited to complete a survey exploring health literacy, barriers to breast cancer screening, and self-reported screening participation. A total of 219 women (69%) reported having a breast screen within the past two years.