Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum.

Richieri-Costa-Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal features include Robin sequence, cleft mandible, laryngeal anomalies and limb defects. A biallelic expansion of a complex repeated motif in the 5' untranslated region of EIF4A3 has been shown to cause this syndrome, commonly with 15 or 16 repeats.

Robot Assisted Training for the Upper Limb after Stroke (RATULS): study protocol for a randomised controlled trial.

Background: Loss of arm function is a common and distressing consequence of stroke. We describe the protocol for a pragmatic, multicentre randomised controlled trial to determine whether robot-assisted training improves upper limb function following stroke.

Methods/design: Study design: a pragmatic, three-arm, multicentre randomised controlled trial, economic analysis and process evaluation.

Unusual presentation for a tailgut cyst.

A 67-year-old man with a slow-growing, asymptomatic perianal lesion was presented to the colorectal clinic. Physical examination and radiological investigation were suggestive of an externally prolapsing colonic polyp. However, intraoperative findings of a cystic lesion containing a thick brown substance questioned the initial diagnosis.

Mercaptopurine versus placebo to prevent recurrence of Crohn's disease after surgical resection (TOPPIC): a multicentre, double-blind, randomised controlled trial.

Background: Up to 60% of patients with Crohn's disease need intestinal resection within the first 10 years of diagnosis, and postoperative recurrence is common. We investigated whether mercaptopurine can prevent or delay postoperative clinical recurrence of Crohn's disease.

Methods: We did a randomised, placebo-controlled, double-blind trial at 29 UK secondary and tertiary hospitals of patients (aged >16 years in Scotland or >18 years in England and Wales) who had a confirmed diagnosis of Crohn's disease and had undergone intestinal resection.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein.

The HubBLe Trial: haemorrhoidal artery ligation (HAL) versus rubber band ligation (RBL) for symptomatic second- and third-degree haemorrhoids: a multicentre randomised controlled trial and health-economic evaluation.

Background: Optimal surgical intervention for low-grade haemorrhoids is unknown. Rubber band ligation (RBL) is probably the most common intervention. Haemorrhoidal artery ligation (HAL) is a novel alternative that may be more efficacious.

Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness.

Ehlers-Danlos syndrome (EDS) encompasses a genetically and clinically heterogeneous group of connective tissue disorders, characterized by joint hypermobility, skin hyperextensibility and tissue fragility. It is a rare condition, and inheritance is either autosomal dominant or recessive. Previously grouped into 11 different subtypes, with increasing knowledge of the underlying molecular defects, it was reclassified in 1997 into 6 major groups, with type VIII excluded from this classification.

LABEL procedure: Laser-Assisted Bile duct Exploration by Laparoendoscopy for choledocholithiasis: improving surgical outcomes and reducing technical failure.

Background: Laparoscopic bile duct exploration (LBDE) is recommended in current treatment guidelines for the management of choledocholithiasis with gallbladder in situ. Failure of this technique is common as a consequence of large or impacted common bile duct (CBD) stones. In this series, we present our experience in using holmium laser lithotripsy as an adjunct to LBDE for the treatment of choledocholithiasis.

Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland.

Objective: Homozygous mutations in the TSH beta subunit gene (TSHB) result in severe, isolated, central congenital hypothyroidism (CCH). This entity evades diagnosis in TSH-based congenital hypothyroidism (CH) screening programmes in the UK and Ireland. Accordingly, genetic diagnosis, enabling ascertainment of affected relatives in families, is critical for prompt diagnosis and treatment of the disorder.

Single-stage laparoscopic management of acute gallstone pancreatitis: outcomes at different timings.

Background: Definitive therapy for gallstone pancreatitis requires eradication of gallstones with cholecystectomy and common bile duct (CBD) clearance. Current guidelines recommend this be done within the same admission and preferably by laparoscopic cholecystectomy and CBD exploration. We report our experience of laparoscopic single-stage management with cholecystectomy and intraoperative cholangiogram followed by laparoscopic bile duct exploration (LBDE) when necessary performed at three different stages.

Pending appendicectomy: a personal experience and review of a doctor's own illness.

Doctors will inevitably 1 day become patients. Whether as an acute emergency or as part of routine screening, doctors often find it difficult to recognise and act on their own healthcare needs. This article aims to provide a personal account and reflections from the point of view of a doctor in denial about his acute appendicitis, and a friend and fellow colleague's attempts to convince him to seek help.

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

Cerebro-Costo-Mandibular syndrome (CCMS) is a rare autosomal dominant condition comprising branchial arch-derivative malformations with striking rib-gaps. Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. We describe a series of 12 sporadic and 4 familial patients including 13 infants/children and 3 adults.

Chemokine (C-C Motif) Receptor 2 Mediates Dendritic Cell Recruitment to the Human Colon but Is Not Responsible for Differences Observed in Dendritic Cell Subsets, Phenotype, and Function Between the Proximal and Distal Colon.

Background & Aims: Most knowledge about gastrointestinal (GI)-tract dendritic cells (DC) relies on murine studies where CD103 DC specialize in generating immune tolerance with the functionality of CD11b subsets being unclear. Information about human GI-DC is scarce, especially regarding regional specifications. Here, we characterized human DC properties throughout the human colon.

PD-1 Expression and Cytokine Secretion Profiles of Mycobacterium tuberculosis-Specific CD4+ T-Cell Subsets; Potential Correlates of Containment in HIV-TB Co-Infection.

HIV co-infection is an important risk factor for tuberculosis (TB) providing a powerful model in which to dissect out defective, protective and dysfunctional Mycobacterium tuberculosis (MTB)-specific immune responses. To identify the changes induced by HIV co-infection we compared MTB-specific CD4+ responses in subjects with active TB and latent TB infection (LTBI), with and without HIV co-infection. CD4+ T-cell subsets producing interferon-gamma (IFN-γ), interleukin-2 (IL-2) and tumour necrosis factor-alpha (TNF-α) and expressing CD279 (PD-1) were measured using polychromatic flow-cytometry.

Small bowel obstruction due to laparoscopic barbed sutures: an unknown complication?

Background: In recent years there has been an increasing uptake in the use of barbed sutures, particularly in minimally invasive and laparoscopic procedures where they may reduce operating time and improve surgical efficiency. However, little is known about the adverse events associated with these new materials and concerns have arisen regarding their safety in certain procedures.

Methods: We performed a search of electronic databases (PubMed, EMBASE, and Cochrane Database).

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

The original article to which this Erratum refers was published in Human Mutation 36(6):593–598(DOI:10.1002/humu22795).The authors realized that a co-author, Nuria C.

Differences in antigen-specific CD4+ responses to opportunistic infections in HIV infection.

HIV-infected individuals with severe immunodeficiency are at risk of opportunistic infection (OI). Tuberculosis (TB) may occur without substantial immune suppression suggesting an early and sustained adverse impact of HIV on Mycobacterium tuberculosis (MTB)-specific cell mediated immunity (CMI). This prospective observational cohort study aimed to observe differences in OI-specific and MTB-specific CMI that might underlie this.

Systematic review with meta-analysis: faecal diversion for management of perianal Crohn's disease.

Background: Temporary faecal diversion is sometimes used for management of refractory perianal Crohn's disease (CD) with variable success.

Aims: To perform a systematic review with meta-analysis to evaluate the effectiveness, long-term outcomes and factors associated with success of temporary faecal diversion for perianal CD.

Methods: Through a systematic literature review through 15 July 2015, we identified 16 cohort studies (556 patients) reporting outcomes after temporary faecal diversion.

Diagnostic accuracy of cardiothoracic ratio on admission chest radiography to detect left or right ventricular systolic dysfunction: a retrospective study.

Objectives: To determine the diagnostic accuracy of the cardiothoracic ratio on postero-anterior or antero-posterior chest radiographs in predicting left ventricular or right ventricular dysfunction on echocardiography in an inpatient population.

Design: Retrospective study.

Setting: Two secondary care hospitals in the United Kingdom.

Successful endovascular treatment of duodenal obstruction caused by large abdominal aortic aneurysm.

Background: Abdominal aortic aneurysm (AAA) causing duodenal obstruction is not a common presentation. Our literature review demonstrated that open surgery was often used to treat such problem. Here, we describe the first case of an endovascular approach to treat acute duodenal obstruction caused by a massive infrarenal AAA.