Bachmann-Bupp syndrome and treatment.

Bachmann-Bupp syndrome (BABS) is a neurodevelopmental disorder characterized by developmental delay, hypotonia, and varying forms of non-congenital alopecia. The condition is caused by 3'-end mutations of the ornithine decarboxylase 1 (ODC1) gene, which produce carboxy (C)-terminally truncated variants of ODC, a pyridoxal 5'-phosphate-dependent enzyme. C-terminal truncation of ODC prevents its ubiquitin-independent proteasomal degradation and leads to cellular accumulation of ODC enzyme that remains catalytically active.

Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders.

Recent identification of four additional polyaminopathies, including Bachmann-Bupp syndrome, have benefited from previous research on Snyder-Robinson syndrome in order to advance from research to treatment more quickly. As a result of the discovery of these conditions, the potential for treatment within this pathway, and for other possible unidentified polyaminopathies, the International Center for Polyamine Disorders (ICPD) was created to help promote understanding of these conditions, research opportunities, and appropriate care for families. This case study provides insights from two new patients diagnosed with Bachmann-Bupp syndrome, further expanding our understanding of this ultra-rare condition, as well as a general discussion about other known polyaminopathies.

Consensus exercise identifying priorities for research in the field of general surgery of childhood in the UK.

Background: The evidence base underlying clinical practice in children's general surgery is poor and high-quality collaborative clinical research is required to address current treatment uncertainties. The aim of this study was, through a consensus process, to identify research priorities for clinical research in this field amongst surgeons who treat children.

Methods: Questions were invited in a scoping survey amongst general surgeons and specialist paediatric surgeons.

Symptomatic diaphragmatic herniation following open and minimally invasive oesophagectomy: experience from a UK specialist unit.

Background: The uptake of minimally invasive oesophagectomy (MIO) in the UK has increased dramatically in recent years. Post-oesophagectomy diaphragmatic hernias (PODHs) are rare, but may be influenced by the type of approach to resection. The aim of this study was to compare the incidence of symptomatic PODH following open and MIO in a UK specialist centre.

The effect of centralisation on the outcomes of oesophagogastric surgery--a fifteen year audit.

Introduction: Centralisation of oesophagogastric (OG) resectional services has been proposed to improve patient outcomes in terms of perioperative mortality and long-term survival. Centralisation of services occurred in Gloucester 5 years ago. The aim of this paper is to assess if local patient outcomes have benefited from centralisation.

Five-year prospective follow-up of 430 laparoscopic totally extraperitoneal inguinal hernia repairs in 275 patients.

Introduction: Favourable short-term results, with respect to less postoperative pain and earlier return to physical activity, have been demonstrated with laparoscopic totally extraperitoneal (TEP) hernia repair compared with open mesh repair. However, there is limited data regarding long-term results.

Patients And Methods: The study cohort consisted of 275 consecutive patients undergoing TEP repair between 1996 and 2002.

Duodenal obstruction by gallstone in the absence of cholecystoenteric fistula, an unusual complication of total gastrectomy: report of a case.

We present a case of gallstone obstruction of the duodenum in a post total gastrectomy patient without a cholecystoenteric fistula. The patient presented with epigastric pain. On abdominal computed tomography and percutaneous transhepatic choangiography imaging, the patient was found to have duodenal obstruction.

Review of the management of recurrent inguinal hernia.

Background: There is little available evidence on the optimal management of recurrent inguinal hernia, particularly if the original procedure involved the use of mesh. This study was a review of recurrent hernia repair in a district hospital, involving both laparoscopic and open procedures.

Methods: The case notes of all patients who had a repair of a recurrent hernia between 1991 and 2000, inclusive, were examined; 171 procedures were included.

Prospective evaluation of magnetic resonance cholangiography to detect common bile duct stones before laparoscopic cholecystectomy.

Background: With the advent of laparoscopic cholecystectomy, endoscopic retrograde cholangiography (ERC) is frequently employed before operation to detect common bile duct stones. However, this is an invasive technique with recognized complications. This study evaluated the accuracy of magnetic resonance cholangiography (MRC) to detect choledocholithiasis in selected patients before laparoscopic cholecystectomy.

Rate and classification of interval cancers in the breast screening programme.

There has been concern about the number of interval cancers which have been detected within the National Breast Screening Programme. A series of 134 women presenting with interval cancers was studied by prospective audit and the rate and radiological classification of the tumours determined. The cancers were classified as true (67), false-negative (22), unclassifiable (28), occult (12), and minimal sign (5).

A comparative audit of prevalent, incident and interval cancers in the Avon breast screening programme.

The 4th year of the Avon breast screening programme comprises two distinct groups: those called for screening for the first time (prevalent group) and those who were initially screened 3 years earlier (incident group). The cancer detection rate, stage of disease and rate of interval cancers in these patients have been compared. For the prevalent groups of year 1 and year 4 there was no statistically significant difference in the cancer detection rate, proportion of small tumours or node positivity.

Plasminogen activators in oesophageal carcinoma.

The expression of components of the plasminogen activator system was investigated in patients with oesophageal carcinoma. Tumour and normal mucosa were obtained from resected oesophageal carcinomas and antigens were measured by enzyme-linked immunosorbent assay. Median levels of urokinase plasminogen activator (uPA) and the uPA receptor were higher in carcinoma than in matched normal mucosa (squamous cell carcinoma: uPA 4.

Four-year evaluation of a direct-access fibreoptic sigmoidoscopy service.

Over a 4-year period, a direct-access fibreoptic sigmoidoscopy service was evaluated prospectively. In all, 756 patients were referred (median age 58 years, range 18-91 years). The principal indications were rectal bleeding (45%) or change of bowel habit (28%); both features were present in 13%.

Human intraperitoneal fibrinolytic response to elective surgery.

Intra-abdominal adhesions develop in over 90 per cent of patients undergoing laparotomy. Peritoneal fibrinolysis is believed to be important in the pathophysiology of adhesion formation. This study investigated the fibrinolytic response of postoperative peritoneal fluid in 12 patients undergoing elective laparotomy.

Experimental adhesion prophylaxis with recombinant tissue plasminogen activator.

The deposition of fibrin in the peritoneal cavity leads to fibrous adhesion formation. Recombinant tissue plasminogen activator (rtPA), delivered locally, was investigated as a method of preventing adhesion formation. Six standardised areas of peritoneal ischaemia were formed in each of 36 male Wistar rats randomised to three intraperitoneal treatments: (A) no treatment control; (B) carboxymethylcellulose gel; (C) rtPA-carboxymethylcellulose gel combination.

Effect of experimental peritonitis and ischaemia on peritoneal fibrinolytic activity.

Objective: Measurement of the fibrinolytic response of the peritoneum to experimental peritonitis and ischaemia.

Design: Controlled study

Setting: Academic surgical unit, UK MATERIAL: Male Wistar rats

Interventions: Peritoneal injuries were caused in four groups of male Wistar rats (n = 35 in each group): (1) control group ("open and close" laparotomy); (2) bacterial peritonitis (mixed faecal flora); (3) chemical peritonitis (10 mg/ml tetracycline) and; (4) ischaemic peritoneum (ligated peritoneal buttons). Peritoneal biopsy specimens were taken from five animals in each group at seven time intervals and plasminogen activating activity (PAA) measured by fibrin plate assay.

Tumour necrosis factor-mediated release of plasminogen activator inhibitor 1 by human peritoneal mesothelial cells.

Human mesothelial cells synthesize plasminogen activator inhibitor (PAI) 1 in inflamed peritoneal tissue. The role of tumour necrosis factor (TNF) in the mediation of this response was studied. Postoperative peritoneal drain fluid contained both TNF and PAI-1.

Thoracoscopic oesophago-gastrectomy--a new technique for intra-thoracic stapling.

A new technique for performing a standard Ivor Lewis oesophagectomy avoiding the need for a conventional right thoracotomy is described. The intrathoracic dissection and the intrathoracic anastomosis, using a conventional EEA circular staple-gun, is done thoracoscopically. Eight patients with carcinoma of the gastric cardia or distal oesophagus were prepared for a palliative Ivor Lewis two-stage oesophago-gastrectomy.

Fibrinolytic activity of ascites caused by alcoholic cirrhosis and peritoneal malignancy.

Coagulopathy is a well recognised complication of peritoneovenous shunting for ascites. The relative contributions of primary fibrinolysis and disseminated intravascular coagulation remain controversial. Plasminogen activating activity was significantly lower in malignant ascites (n = 10, median < 0.

General surgeons' attitudes to the treatment and prevention of abdominal adhesions.

A questionnaire survey of general surgeons was undertaken to estimate the incidence of abdominal adhesions as a clinical problem and to establish current attitudes to the treatment of adhesional bowel obstruction and the prevention of adhesion formation. Replies were received from 362 of 416 surgeons (response rate 87%). In all, 76% (95% confidence limits, 72%-80%) of surgeons operate upon at least two patients each year with adhesional small bowel obstruction and 31% (26-36) operate upon more than five patients.

Plasminogen activator inhibitor 2 reduces peritoneal fibrinolytic activity in inflammation.

Fibrinolysis in peritoneal tissue may play a role in the development of intra-abdominal adhesions. The plasminogen-activating capacity of human peritoneum results largely from the presence of tissue plasminogen activator (tPA). Inflammation reduces peritoneal plasminogen-activating activity and leads to the appearance of plasminogen activator inhibitor (PAI) type 1.