A case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeat PHOX2B mutation.

We describe a three generation family in whom multiple individuals are variably affected due to a PHOX2B non-polyalanine repeat mutation. This family demonstrates extreme phenotypic variability and autosomal dominant transmission over three generations not previously reported in the wider literature. Novel findings also inclue a history of recurrent second trimester miscarriage. Pediatr Pulmonol. 2014; 49:E140-E143. © 2014 Wiley Periodicals, Inc.

Experimental pancreatic cancer in the Syrian hamster: effect of cholecystectomy.

Because cholecystectomy stimulates hypertrophy and hyperplasia in the hamster pancreas, its effect on experimental pancreatic carcinogenesis was studied in this animal model. Forty female Syrian hamsters underwent cholecystectomy, while 40 others underwent sham operations. Two weeks later, 30 hamsters undergoing cholecystectomy and 30 hamsters undergoing sham operations received 4 weekly subcutaneous injections of N-nitroso-bis (2-oxopropyl) amine (BOP) (10 mg/kg). Remaining hamsters (n = 20) received equal volumes of 0.9% saline solution. A further 10 hamsters (controls) underwent no surgery and received no injections. Thirty weeks after the first BOP or saline injection the pancreas of hamsters that had undergone cholecystectomy was only 3% heavier than that of sham-operated animals, and there was no difference in the incidence of pancreatic cancer between BOP-treated hamsters that had undergone cholecystectomy and those that had undergone sham operations. In this study, cholecystectomy had no influence on BOP-induced pancreatic carcinogenesis in the Syrian hamster.

Partial amputations of the foot for diabetic gangrene.

Over a 5-year period 68 diabetic patients underwent 102 primary partial amputations of the foot for infected diabetic gangrene. Seventy (69%) of these operations healed without further local surgery, but five patients needed seven femoropopliteal bypass grafts (two bilateral) to achieve healing. In total, 32 primary operations needed revision by further surgery to the foot or by leg amputation. Of the original operations 31% were carried out by a consultant surgeon; the rest (69%) were performed by a junior surgeon. By contrast, only four of the 32 operations needing revision (12%) had originally been done by a consultant, whereas 28/32 (88%) had been carried out by a junior surgeon. Of limbs at risk 65/80 (81%) were salvaged. Five patients died during their hospital admission, giving an overall mortality of 7%.

Intestinal obstruction by overdistension of a jejunostomy catheter balloon: a salutary lesson.

Jejunostomy is an alternative method for feeding patients who cannot be fed orally. However, there may be an associated morbidity and potential mortality. In the case presented, overdistension of a jejunostomy catheter balloon led to intestinal obstruction and pressure necrosis (of the small bowel), with subsequent abscess formation leading to death from septicemia.

Arterioenteric fistulas.

Any patient with an abdominal aortic aneurysm, aortic graft or previously resected infected graft who presents with gastrointestinal bleeding or sepsis must be assumed to have an arterioenteric fistula. Warning bleeds are common. Oesophagogastroduodenoscopy may be diagnostic and should exclude other causes of upper gastrointestinal haemorrhage. Urgent investigation and surgery are essential for a successful outcome.

Secondary arterio-enteric fistulae: a surgical challenge.

Ten cases of secondary arterio-enteric fistulae are described. There were nine graft enteric fistulae and one fistula involving the aortic suture line following elective resection of an infected graft. Only four of the patients initially received prophylactic antibiotics (single dose) at the original aortic reconstruction, and the vascular suture line had only been protected in two. Eight patients presented with bleeding and two with groin abscesses. One patient died before operation. Graft resection was undertaken in all patients and organisms were grown from six of eight grafts cultured. No patient died during operation but one died after 3 days. Axillofemoral bypass grafts were constructed in seven patients (four immediately after resection of prosthetic grafts and three within 4 days of operation). Only three of the eight patients who survived operation are still alive; two died of a ruptured aorta and one from a recurrent fistula. Two patients died of other causes. Four of five axillofemoral grafts in surviving patients subsequently occluded.

Interstitial emphysema of the stomach.

A case of interstitial emphysema of the stomach is reported and the possible aetiological factors involved are discussed.

Treatment of early breast cancer.

The early follow-up of patients treated by simple mastectomy alone or simple mastectomy combined with radical radiotherapy is presented. Both groups were well matched for age, menopausal status, duration of symptoms, size of tumour, and lymph-node involvement. There was no significant difference in survival of patients in the two groups at three years, but local recurrence was significantly more frequent (28%) in the mastectomy-alone patients. Early survival was not adversely affected by radiotherapy.