Opinion survey of members of British Society of Children's Orthopaedic Surgery related to specific case scenarios in slipped capital femoral epiphysis.

The aim of this study was to assess contemporary management of slipped capital femoral epiphysis (SCFE) by surveying members of the British Society of Children's Orthopaedic Surgery (BSCOS). A questionnaire with five case vignettes was used. Two questions examined the timing of surgery for an acute unstable SCFE in a child presenting at 6 and 48 h after start of symptoms.

Correction of the Pathogenic Alternative Splicing, Caused by the Common GNB3 c.825C>T Allele, Using a Novel, Antisense Morpholino.

The very common GNB3 c.825C>T polymorphism (rs5443) is present in approximately half of all human chromosomes. Significantly, the presence of the GNB3 825T allele has been strongly associated with predisposition to essential hypertension.

Amplitude-integrated EEG and the newborn infant.

There is emerging recognition of the need for continuous long term electrographic monitoring of the encephalopathic neonate. While full-montage EEG with video remains the gold standard for monitoring, it is limited in application due to the complexity of lead application and specialized interpretation of results. Amplitude integrated EEG (aEEG) is derived from limited channels (usually C3-P3, C4-P4) and is filtered, rectified and time-compressed to serve as a bedside electrographic trend monitor.

Prevalence of developmental dysplasia of the hip in children with clubfoot.

Purpose: The relationship between congenital talipes equinovarus (CTEV) and developmental dysplasia of the hip (DDH) remains uncertain. The role of routine hip screening in children with CTEV is debated. A recent study has found a high incidence of DDH in patients with CTEV.

Epidemiology and clinical features of childhood chronic hepatitis B infection diagnosed in England.

Background: This study aimed to estimate the prevalence of childhood chronic hepatitis B (CHB) infection diagnosed in England using capture-recapture analysis of 2 independent data sources and to describe the clinical and epidemiological characteristics, management, complications and outcome of children with CHB.

Methods: Pediatric specialists were contacted to report all CHB cases in children aged <16 years and complete a standardized questionnaire. Capture-recapture analysis of cases diagnosed during 2001-2009 using 2 independent data sources was performed to estimate the prevalence of childhood CHB.

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-marrow-failure syndromes in which the principal pathology is defective telomere maintenance. The genetic basis of many cases of DC and HHS remains unknown. Using whole-exome sequencing, we identified biallelic mutations in RTEL1, encoding a helicase essential for telomere maintenance and regulation of homologous recombination, in an individual with familial HHS.

Optimal assessment of paediatric IBD with MRI and barium follow-through.

Objectives: The present UK criterion standard for assessing children with suspected inflammatory bowel disease (IBD) is upper endoscopy, ileocolonoscopy, and barium follow-through (BaFT). Significant doses of radiation, unpalatable contrast, and volume intolerance are involved with BaFT. Practice in investigating Crohn disease (CD) is changing with the increasing use of magnetic resonance imaging (MRI).

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.

The myelodysplastic syndromes (MDS) are heterogeneous and can evolve into acute myeloid leukaemia (AML). Rare familial cases are reported in which five disease genes have been identified to date (RUNX1, CEBPA, TERC, TERT and GATA2). Here we report the genetic categorization of 27 families with familial MDS/AML.

Immunohistochemical confirmation of the presence of smooth muscle in the normal neonatal anorectum and in neonates with anorectal malformations.

Aim: To evaluate the presence of smooth muscle in relation to the anorectum in neonates that are normal and in neonates with anorectal malformations using immunohistochemical staining of antibodies specific to smooth muscle actin (SMA).

Methods: Research ethics committee approval was obtained to study historical neonatal tissue sections. 7-15-μ thickness, sagittal sections of both normal anorectums (NA) and neonates with anorectal malformations (ARM) were available to study.

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.

Dyskeratosis congenita (DC) is an inherited poikiloderma which in addition to the skin abnormalities is typically associated with nail dystrophy, leucoplakia, bone marrow failure, cancer predisposition and other features. Approximately 50% of DC patients remain genetically uncharacterized. All the DC genes identified to date are important in telomere maintenance.

Non-cystic fibrosis bronchiectasis: its diagnosis and management.

An increase in the frequency of diagnosing non-cystic fibrosis bronchiectasis in children is due to heightened awareness of the disease and the wider availability of high-resolution computed tomography. The most common underlying conditions leading to bronchiectasis include infections, immunodeficiency, aspiration and primary ciliary dyskinesia. Treatment centres on airway clearance with aggressive antibiotic regimens and physiotherapy; more specific approaches are available for some of the underlying conditions.

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.

The primary pathology in many cases of myelodysplasia (MDS) and acute myeloid leukemia (AML) remains unknown. In some cases, two or more affected members have been identified in the same family. To date, mutations in two genes have been directly implicated: the hematopoietic transcription factors RUNX1 (runt-related transcription factor 1) and CEBPA (CCATT-box enhancer binding protein alpha).

Managing atopic eczema in childhood: the health visitor and school nurse role.

Atopic eczema affects up to 20% of children in the UK. It is a disease of varying severity, and health visitors and school nurses have a vital role in educating and supporting children and their parents and carers in its management. Diagnosis and assessment needs to consider atopic eczema severity, effect on quality of life and contributing trigger factors.

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.

Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities and a predisposition to cancer. The genetic basis of DC remains unknown in more than 60% of patients. Mutations have been identified in components of the telomerase complex (dyskerin, TERC, TERT, NOP10, and NHP2), and recently in one component of the shelterin complex TIN2 (gene TINF2).