Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.

Carboxypeptidase E is a peptide processing enzyme, involved in cleaving numerous peptide precursors, including neuropeptides and hormones involved in appetite control and glucose metabolism. Exome sequencing of a morbidly obese female from a consanguineous family revealed homozygosity for a truncating mutation of the CPE gene (c.76_98del; p.

Pleural epithelioid hemangioendothelioma: literature summary and novel case report.

Epithelioid hemangioendothelioma (EHE) is a rare malignant cancer of vascular origin that can affect multiple and varied tissue sites. A subtype of EHE, pulmonary epithelioid hemangioendothelioma (PHE), is more unusual with only 200 reported cases. Of these, only 27 have been classified as pleural in origin.

A prospective comparison of performance during back-to-back, anterograde manual spiral enteroscopy and double-balloon enteroscopy.

Background: Spiral enteroscopy is a recently introduced technology alternative to balloon-assisted enteroscopy for examination of the small bowel.

Aim: To compare small bowel insertion depths and procedure duration by spiral enteroscopy and double-balloon enteroscopy performed in the same cohort of patients, in immediate succession, using the same method of insertion depth estimation.

Methods: A prospective, back-to-back comparative study was performed in 15 patients.

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

Adams-Oliver syndrome (AOS) is characterized by the association of aplasia cutis congenita with terminal transverse limb defects, often accompanied by additional cardiovascular or neurological features. Both autosomal-dominant and autosomal-recessive disease transmission have been observed, with recent gene discoveries indicating extensive genetic heterogeneity. Mutations of the DOCK6 gene were first described in autosomal-recessive cases of AOS and only five DOCK6-related families have been reported to date.

Clinical and anthropological perspectives on chemical relaxing of afro-textured hair.

The culturally engrained practice of 'relaxing' afro-textured hair has been linked with hair and scalp disorders. Herein, we discuss the evolution of human hair types, focusing in particular on afro-textured hair. We explore the biological features of this hair type, and discuss the different methods employed to straighten afro-textured hair, focusing in particular on chemical straightening.

Compartment-specific immunity in the human gut: properties and functions of dendritic cells in the colon versus the ileum.

Objective: Dendritic cells (DC) mediate intestinal immune tolerance. Despite striking differences between the colon and the ileum both in function and bacterial load, few studies distinguish between properties of immune cells in these compartments. Furthermore, information of gut DC in humans is scarce.

Mosaic structural variation in children with developmental disorders.

Delineating the genetic causes of developmental disorders is an area of active investigation. Mosaic structural abnormalities, defined as copy number or loss of heterozygosity events that are large and present in only a subset of cells, have been detected in 0.2-1.

Guidelines for management of sodium hypochlorite extrusion injuries.

Sodium hypochlorite (NaOCl) is the most common irrigant used in modern endodontics. It is highly effective at dissolving organic debris and disinfecting the root canal system due to the high pH. Extravasation of NaOCl into intra-oral and extra-oral tissues can lead to devastating outcomes leading to long-term functional and aesthetic deficits.

Further delineation of the KAT6B molecular and phenotypic spectrum.

KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34/57 patients and were commonly located in the terminal exons of KAT6B.

Human gut dendritic cells drive aberrant gut-specific t-cell responses in ulcerative colitis, characterized by increased IL-4 production and loss of IL-22 and IFNγ.

: The pathogenesis of inflammatory bowel disease is incompletely understood but results from a dysregulated intestinal immune response to the luminal microbiota. CD4 T cells mediate tissue injury in the inflammatory bowel disease-associated immune response. Dendritic cells (DC) generate primary T-cell responses and mediate intestinal immune tolerance to prevent overt inflammation in response to the gut microbiota.

The feasibility and validity of care mapping in the clinical neurosciences.

Dementia Care Mapping (DCM) is an observational tool and process that is widely used in dementia care in measuring and improving person-centred care (PCC). DCM was previously piloted on a neurorehabilitation ward, where it was found to be feasible and acceptable in this setting. Following this, a new modified tool and accompanying manual were developed: Care Mapping - Neurorehabilitation (DCM-NR).

Antenatal atazanavir: a retrospective analysis of pregnancies exposed to atazanavir.

Introduction: There are few data regarding the tolerability, safety, or efficacy of antenatal atazanavir. We report our clinical experience of atazanavir use in pregnancy.

Methods: A retrospective medical records review of atazanavir-exposed pregnancies in 12 London centres between 2004 and 2010.

HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants.

Pancreatitis occurs in approximately 4% of patients treated with the thiopurines azathioprine or mercaptopurine. Its development is unpredictable and almost always leads to drug withdrawal. We identified patients with inflammatory bowel disease (IBD) who had developed pancreatitis within 3 months of starting these drugs from 168 sites around the world.

Conservative management of a large keratocystic odontogenic tumour.

Since the term odontogenic keratocyst first appeared in the literature, controversy has surrounded its terminology and surgical management. Recent articles would suggest that surgical opinion is still divided between aggressive radical resection and a more conservative approach. We present an interesting case of a large keratocystic odontogenic tumour shown to have eroded through bony cortices and present within soft tissues that was satisfactorily managed conservatively by decompression and secondary enucleation.

Intra-procedural pain score in a randomised controlled trial comparing mechanochemical ablation to radiofrequency ablation: The Multicentre Venefit™ versus ClariVein® for varicose veins trial.

Objective: Endovenous techniques are, at present, the recommended choice for truncal vein treatment. However, the thermal techniques require tumescent anaesthesia, which can be uncomfortable during administration. Non-tumescent, non-thermal techniques would, therefore, have potential benefits.

Management of paediatric tuberculosis in leading UK centres: unveiling consensus and discrepancies.

Setting: Large specialist paediatric TB clinics in the UK.

Objective: To evaluate clinical practice and compare with national and international guidelines.

Design: A survey based on an electronic questionnaire on the management of latent tuberculous infection (LTBI) and tuberculosis (TB) disease was conducted in 13 specialist paediatric TB clinics.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Background: Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-function mutations in NIPBL with mosaic individuals representing a significant proportion. Mutations in other cohesin components, SMC1A, SMC3, HDAC8 and RAD21 cause less typical CdLS.

Annual review of children with tuberous sclerosis.

Tuberous sclerosis complex is a complex childhood disorder characterised by the formation of hamartomas in multiple organs. Annual review of this disease is recommended to monitor the development of complications. We aim to provide a concise, evidence-based framework to assist clinicians during this annual review.