Hereditary diffuse gastric cancer associated with E-cadherin germline mutation: a case report.

Hereditary diffuse gastric cancer (HDGC) is an autosomal dominate cancer syndrome that leads to an increased risk of developing invasive diffuse type (signet ring cell) gastric carcinoma. Approximately 30% of HDGC cases are caused by a germline mutation involving the E-cadherin (CDH1) gene. Those with the CDH1 mutation have an 80% and 60% cumulative lifetime risk of developing diffuse type gastric carcinoma and lobular breast carcinoma respectively. Due to the focal nature of early diffuse type gastric carcinoma, identifying early lesions with surveillance endoscopy is limited. As a result, elective risk-reducing total gastrectomy is currently recommended. In this report, the clinical, intraoperative, and pathologic work-up is reviewed regarding a patient with known CDH1 germline mutation.

Cutaneous larva migrans in infants in the Adelaide Hills.

Four infants aged between 8 and 13 months presented between November 2002 and May 2006 with dermatitis of the lower abdomen, perineum or buttocks. All lived in semi-rural properties in the Adelaide Hills and had not travelled outside South Australia. Wandering thread-like serpiginous tracks were evident on examination, consistent with a diagnosis of cutaneous larva migrans. No abnormalities were detected on full blood examination, Strongyloides stercoralis serology or faecal analysis. Treatment with oral albendazole resulted in rapid resolution of symptoms. An epidemiological survey was undertaken which suggested possums or millipedes may have been the source of nematode larvae, the precise nature of which is unclear but could include Parastrongyloides trichosuri and Rhabditis necromena.

Novel approach to right ventricular outflow tract reconstruction using a stentless porcine valve.

BACKGROUND: The use of a stentless aortic bioprosthesis offers the advantages of a larger effective valve orifice size, reduced transvalvular gradients, and improved hemodynamics versus stented valves. We hypothesized that these features would make the Toronto stentless porcine valve a preferred choice for patients with congenital abnormalities of the right ventricular outflow tract. METHODS: We retrospectively reviewed medical records of 21 patients with tetralogy of Fallot who subsequently underwent right ventricular outflow tract reconstruction during a 6-year period. RESULTS: The majority of patients received a 29-mm valve (n = 13), 5 received a 27-mm valve, with 1 each additional implant of a 19-, 22-, and 23-mm prosthesis. The mean age and weight were 24.5 years (range, 7 to 54 years) and 55.6 kg (range, 13.9 to 98.0 kg), respectively. Preoperatively, all patients had severe pulmonary insufficiency, mixed with mild to moderate stenosis in 2. The duration of postoperative echocardiographic follow-up ranged from 10 to 70 months (mean, 37.7 months). At the time of most recent follow-up, pulmonary insufficiency was graded as zero to trace in 47.4% (9 of 19 patients), mild in 42.1% (8 of 19 patients), and moderate in 10.5%, with 6 patients (31.6%) having concomitant pulmonary stenosis. The most recent mean and peak transvalvular gradients averaged 17.4 mm Hg (range, 11 to 24 mm Hg) and 26 mm Hg (range, 13 to 42 mm Hg), respectively. There have been no valve-related complications or explants, with one late death as a result of a noncardiac cause. CONCLUSIONS: The stentless porcine valve is well suited for valve replacement in children, adolescents, and adults with congenital abnormalities of the right ventricular outflow tract, regardless of patient or valve size, particularly when significant downstream hemodynamic abnormalities exist.

Modification of an extracorporeal life support circuit for intraoperative correction of complex congenital heart disease.

Extracorporeal life support (ECLS) was established in a newborn infant diagnosed with severe respiratory failure secondary to complex congenital heart disease. After 4 days of ECLS support in the intensive care unit, the infant was brought to the operating room for repair of the primary lesion. Due to concerns related to recurrent respiratory failure associated with blood contact to a new extracorporeal circuit, the existing ECLS circuit was modified for use in the operating room. This report describes the circuit modification steps and challenges related to running a modified ECLS circuit for cardiopulmonary support during cardiac surgery.

Regression of severe pulmonary arteriovenous malformations after Fontan revision and "hepatic factor" rerouting.

Although previously described in patients undergoing staged palliation for univentricular heart disease, the mechanism by which hepatic venous flow prevents development of pulmonary arteriovenous malformations is still not completely understood. We present a case in which successful H-type Fontan revision with rerouting of hepatic venous flow through a hemiazygous vein successfully reversed the progression of severe left pulmonary arteriovenous malformations.

Single lung ventilation in children using a new paediatric bronchial blocker.

As video-assisted thoracoscopic surgery has become more common in paediatric patients, the use of single lung ventilation in children has also increased. Single lung ventilation in young children is performed by either advancing a tracheal tube into the mainstem bronchus opposite the side of surgery or by positioning a bronchial blocker into the mainstem bronchus on the operative side. Techniques for placing a variety of bronchial blockers outside the tracheal tube have been described. We describe a technique for placement of a new bronchial blocker through an indwelling tracheal tube using a multiport adaptor and a fibreoptic bronchoscope.

Adult presentation of complete atrioventricular septal defect.

Complete atrioventricular septal defect generally presents early in life with symptoms of congestive heart failure. Untreated, patients almost universally develop irreversible pulmonary hypertension. We present an unusual case of a Down's syndrome patient whose septal defect first presented at 20 years of age.