Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.

Transcriptor co-activator factor 20 gene (TCF20) encodes a nuclear chromatin-binding protein involved in regulation of gene expression. In human pathology, pathogenic variants or deletions in TCF20 were identified in patients with developmental delay, variable intellectual disability and behavioral impairment (OMIM: 618430). The shared core phenotype includes developmental delay, hypotonia, motor delay, autism spectrum disorders, neurobehavioral anomalies, neurological features such as ataxia, seizures, movement disorders, structural brain anomalies, craniofacial features and various congenital anomalies.

Where is the nerve? Review of operation note documentation practice for inguinal hernia repair.

Introduction: Careful identification and management of inguinal nerves during inguinal hernia repair is important to avoid iatrogenic injury. Documentation of this practice may inform postoperative clinical management. We set out to investigate how often surgeons identify inguinal nerves and document findings and management in their operation notes.

Chronic groin pain following open inguinal hernia repair: has consenting practice improved?

Introduction: Chronic groin pain following inguinal hernia surgery is a common and potentially debilitating complication, and yet patients are infrequently informed of this risk. This leaves surgeons open to negligence claims, especially given recent changes to case law, which for the first time highlighted the need for a more patient-centred approach to risk disclosure. We investigated how these changes have influenced our consenting practice with respect to the disclosure of this risk.

One-Year Clinical Outcomes in an IBD Cohort Who Have Previously Had Anti-TNFa Trough and Antibody Levels Assessed.

Background: Loss of response (LOR) is a big concern for anti-TNFa therapies in inflammatory bowel disease. Immunomonitoring may be useful to optimize response rates and overcome secondary LOR.

Methods: This was an observational retrospective cohort study of a group of patients with inflammatory bowel disease on infliximab (IFX) and adalimumab (ADA) who had anti-TNFa trough and antibody levels measured, during maintenance phase of treatment.

A clinicopathological study of serotonin of sigmoid colon mucosa in association with chronic symptoms in uncomplicated diverticulosis.

Introduction: Neurotransmitter imbalance is hypothesised as a pathogenetic mechanism in several bowel conditions. We previously reported increased 5-HT in the sigmoid mucosa of colon resected for complicated diverticular disease (DD). We aimed to identify if abnormal 5-HT expression is associated with symptoms of uncomplicated DD.

Review article: the pathogenesis of diverticular disease--current perspectives on motility and neurotransmitters.

Background: Low-fibre diet, structural abnormalities and ageing are traditional aetiological factors implicated in the development of diverticular disease. More recently, motility disorders are implicated in its causation leading to speculation that neurotransmitters play a role in mediating these disturbances.

Aims: To draw together studies on the role of neurotransmitters in the development of diverticular disease and its symptoms.

Proctalgia fugax, an evidence-based management pathway.

Purpose: Proctalgia fugax (PF) is a benign anorectal condition which has been described in the literature since the nineteenth century commonly presenting to general surgeons. There is little high level evidence on the subject and its therapeutic modalities. We aimed through this systematic literature review to outline the definition and diagnostic criteria of this condition, the aetiology and differential diagnoses and describe the different treatment modalities that have been attempted and their success.

Surgical removal of a tea spoon from the ascending colon, ten years after ingestion: a case report.

Introduction: The presentation of ingested foreign bodies in the gastrointestinal system is common in the emergency setting. The majority responds to conservative management and passes spontaneously; however, giant foreign bodies pose a management difficulty. We report a peculiar case of a giant foreign body (spoon) that presented very late after ingestion and the management of this presentation.

Diverticular disease hospital admissions are increasing, with poor outcomes in the elderly and emergency admissions.

Background: Diverticular disease has a changing disease pattern with limited epidemiological data.

Aim: To describe diverticular disease admission rates and associated outcomes through national population study.

Methods: Data were obtained from the English 'Hospital Episode Statistics' database between 1996 and 2006.

Prospective evaluation of a colorectal cancer nurse follow-up clinic.

Aim: Colorectal Nurse Specialist (CNS) clinics for postoperative follow up of colorectal cancer aim to maintain clinical efficacy while reducing costs. We prospectively studied the efficacy and financial implications of such a clinic.

Method: This was a prospective study of all patients attending CNS clinics over 3 years.

The morbidity surrounding reversal of defunctioning ileostomies: a systematic review of 48 studies including 6,107 cases.

Background And Aims: Loop ileostomies are used currently in surgical practice to reduce the consequences of distal anastomotic failure following colorectal resection. It is often assumed that reversal of a loop ileostomy is a simple and safe procedure. However, many studies have demonstrated high morbidity rates following loop ileostomy closure.

Follow-up in patients with disseminated peritoneal leiomyomatosis: a report of an unusual, high-risk case.

Leiomyomatosis peritonei disseminata is a condition seen uncommonly in states of oestrogen hypersecretion in women of childbearing age. There are no clear guidelines for the primary management and follow-up of these patients. Here, a rare case in a postmenopausal woman with a normal hormonal state who may be considered higher risk is presented, with a review suggesting a management pathway in these patients.

Diverticular disease increases and effects younger ages: an epidemiological study of 10-year trends.

Introduction: Little data exists on epidemiological trends of diverticular disease (DD). This study of 2,979 admissions over 10 years aimed to examine the epidemiological trends of DD admissions and clinical outcomes.

Methods: A retrospective analysis of all admissions with DD from 1995 to 2004 was performed.

Colo-anal pouches: lessons from a prospective audit.

Objective: Colonic pouch formation with pouch-anal anastomosis is the treatment of choice following restorative anterior resection for low rectal cancers with a proximal loop ileostomy to defunction the anastomosis. Controversy exists as to whether anastomotic integrity needs to be checked prior to ileostomy reversal. The aim of this prospective study was to audit our current practice.

Faecal incontinence as presentation of an ependymomas of the spinal cord.

Background: Spinal tumours and ependymomas in particular are rare causes of cauda equina syndrome that present with faecal incontinence.

Case Presentation: We present a case of a 45 year old gentleman who presents to a colorectal clinic with incontinence. We then present a review of ependymomas with particular reference to the symptoms they cause as well a review of the neurophysiology of faecal continence.

Factors that influence the adequacy of total mesorectal excision for rectal cancer.

Objective: In 1997 with the start of CRO7 trial it was agreed that adequacy of surgical resection of rectal cancer would be determined by a pathologically determined grading of the mesorectum the so called total mesorectal excision score (TME score). Scores ranged from 1-3 with 3 being a perfect specimen. The aim of this study was to investigate factors which may influence TME scores and establish if local recurrence is related to them.

Use of biophysical characterization in preformulation development of a heavy-chain fragment of botulinum serotype B: evaluation of suitable purification process conditions.

Purpose: The purpose of this study was to investigate the physicochemical and structural characteristics of recombinant botulinum serotype B (rBoNTB(Hc)) under various conditions and to use the information in evaluating suitable purification process conditions.

Methods: The solubility of rBoNTB(Hc) was evaluated at pH 4, 5, 6 7.5, 8, and 9.

Identifying and modulating disulfide formation in the biopharmaceutical production of a recombinant protein vaccine candidate.

Structural conversion of the serotype A recombinant botulinum neurotoxin heavy chain fragment (rBoNTA(Hc)) produced intracellularly in Pichia pastoris yeast was observed and characterized during purification development efforts. A pH screening study captured the transformation stages of the original recovered species into its derived counterpart and a number of analytical tools such as peptide mapping by LC/MS confirmed the formation of a disulfide bond, especially in samples of neutral to basic pH. A cation exchange chromatographic method proved useful in following the incidence of the reaction in various rBoNTA(Hc) samples.

Electrical stimulation of transforming growth factor-beta 1 secretion by human dermal fibroblasts and the U937 human monocytic cell line.

The in vitro effects on human dermal fibroblasts and the U937 human monocytic cell line of three phases of electrical microcurrents generated by the ACE Stimulator were investigated. The growth and viability of growing and confluent dermal fibroblasts were not directly influenced by the separate microcurrent phases. One form of microcurrent (designated phase 1) stimulated both dermal fibroblasts and U937 cells to secrete transforming growth factor-beta 1 (TGF-beta 1), which is an important regulator of cell-mediated inflammation and tissue regeneration, but none of the three phases stimulated secretion of the pro-inflammatory cytokine interleukin-6 by U937 cells.

Site-specific phosphorylation of human p53 protein determined by mass spectrometry.

Human recombinant p53 (r-p53) protein was studied by mass spectrometry (MS) to determine site-specific posttranslational differences between basal and hyperphosphorylated r-p53. Wild-type p53 was basally expressed after baculovirus infection while a parallel preparation was treated with the phosphatase inhibitor okadaic acid during the terminal stages of expression to create a hyperphosphorylated form of p53 known for its higher DNA binding and transcriptional activation. After immunoaffinity and HPLC purification, MALDI/MS measured a higher molecular mass for r-p53 from okadaic acid treatment relative to control, suggesting a higher phosphorylation state.

Matrix-assisted laser desorption ionization/mass spectrometry mapping of human immunodeficiency virus-gp120 epitopes recognized by a limited polyclonal antibody.

In this study we have applied epitope excision and epitope extraction strategies, combined with matrix assisted laser desorption/ionization mass spectrometry, to determine the fine structure of epitopes recognized by a polyclonal antibody to human immunodeficiency virus envelope glycoprotein gp120. This is the first application of this approach to epitope mapping on a large, heavily glycosylated protein. In the epitope excision method, gp120 in the native form is first bound to the antibody immobilized on sepharose beads and cleaved with endoproteinase enzymes.

Audit of new long-stay patients in Permai Mental Hospital, Johor.

We report a cross-sectional descriptive study of 90 new long-stay patients (NLS) (i.e. those who had been resident for six months to three years in Permai Mental Hospital, Johor) and studied from April to June, 1995.