Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.

SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not universally seen and only half (52%) had four or more of the classic features. The commonly observed clinical features of SHORT syndrome seen in the cohort included intrauterine growth restriction (IUGR) <10th percentile, postnatal growth restriction, lipoatrophy and the characteristic facial gestalt. Anterior chamber defects and insulin resistance or diabetes were also observed but were not as prevalent. The less specific, or minor features of SHORT syndrome include teething delay, thin wrinkled skin, speech delay, sensorineural deafness, hyperextensibility of joints and inguinal hernia. Given the high risk of diabetes mellitus, regular monitoring of glucose metabolism is warranted. An echocardiogram, ophthalmological and hearing assessments are also recommended.

Invited review: Lactobacillus helveticus--a thermophilic dairy starter related to gut bacteria.

The strain Lactobacillus helveticus DPC4571 has emerged as a promising flavor adjunct culture for Cheddar cheese given that it is consistently associated with improved flavor. The availability of the complete genome sequence of Lb. helveticus DPC4571 has enabled the search for the presence or absence of specific genes on the genome, in particular those of technological interest. Indeed, this analysis has facilitated a greater understanding into the functioning of lactic acid bacteria as a whole. The biochemical pathways of Lb. helveticus responsible for producing flavor compounds during cheese ripening are poorly understood but now with the availability of a complete genomic sequence are ripe for exploitation. Bioinformatic analysis of the genome of Lb. helveticus DPC4571 has revealed a plethora of genes with industrial potential including those responsible for key metabolic functions that contribute to cheese flavor development such as proteolysis, lipolysis, and cell lysis. In addition, it has been demonstrated that Lb. helveticus has the potential to produce bioactive peptides such as angiotensin converting enzyme inhibitory activity in fermented dairy products, demonstrating the therapeutic value of this species. A most intriguing feature of the genome of Lb. helveticus DPC4571 is the remarkable similarity in gene content with many intestinal lactobacilli, although originating from considerably different environments. Bioinformatic analysis demonstrated that 65 to 75% of genes were conserved between the commensal and dairy lactobacilli, which allowed key niche-specific gene sets to be described. This review focuses on the isolation, characterization, and exploitation of the Lb. helveticus species with particular emphesis on taking into consideration recent genome sequence data for Lb. helveticus and other Lactobacillus species.

Carcinoma of the small intestine in regional enteritis: presentation of a case and review of the literature.

A case of carcinoma of the jejunum occurring in a patient with Crohn's disease of 30-years' duration is presented. Forty-seven previously reported small bowel carcinomas in Crohn's disease patients are reviewed. The incidence of small bowel carcinomas in patients with Crohn's disease has been cited as being as low as 0.08%, a figure which is still higher than the 1 in 10(9) population which would be predicted if the two diseases were independent of one another. The average age of incidence of the Crohn's carcinomas was 46.5 years while that for the de novo group was 55 years. The sexual ratios were 2.46:1 and 2:1, males to females, for the respective groups. The de novo carcinomas had a slight predilection for the duodenum at 40.7% while the latter group had a heavy predilection for the ileum at 70.8% and contained no duodenal carcinomas. The prognosis of the Crohn's group appeared to be much worse than that of the de novo group with five-year survivals of 3.7% and 20-22% respectively. Late diagnosis in the enteritis group was felt to be the major reason for this. Finally, several pathological differences between the lesions in both groups are presented.

Use of a questionably viable flap as a full thickness skin graft after mastectomy.

Questionably viable skin flaps may be used as full thickness grafts after mastectomy. It is suggested that the procedure described can help reduce the incidence of flap necrosis after mastectomy and yield a more acceptable cosmetic result.

Esophagogastrostomy. Analysis of 55 cases.

At the New York University Medical Center from January, 1969, through December, 1973, esophagogastrostomies were performed in 56 patients. In 30 (Group A), fundoplications were combined with the esophagogastrostomies; in the other 26 (Group B), esophagogastrostomies only were performed. These two groups have been compared in an effort to determine the effectiveness of fundoplication in preventing gastric reflux following esophagogastrostomy. The operative mortality rate (10 per cent) and the 3 year survival rate (20 per cent) were approximately equal in the two groups. Clinical evidence of reflux was noted in 10 per cent of Group A and 47 per cent of Group B patients, while complications of reflux were noted in 5 per cent of Group A and in 33 per cent of Group B patients. The results of the present study suggest that fundoplication, while not prolonging survival, does prevent the symptoms and complications of gastric reflux and improves the quality of survival in these unfortunate patients. This leads us to recommend the routine use of fundoplication with esophagogastrostomy in patients with carcinoma of the esophagus and gastric cardia.