X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MIM 304930) is the genetic equivalent of the scurfy (sf) mouse, we sequenced the human ortholog (FOXP3) of the gene mutated in scurfy mice (Foxp3), in IPEX patients. We found four non-polymorphic mutations. Each mutation affects the forkhead/winged-helix domain of the scurfin protein, indicating that the mutations may disrupt critical DNA interactions.

Protein losing enteropathy in critically ill adult patients with burns: a preliminary report

Objective: Few data have been published regarding protein losing enteropathy in adult patients with burns. This study characterised the presence of protein-losing enteropathy in adults with burns and examined the relationship between the magnitude of bum size and the severity of protein loss. Methods: Twenty adult patients with burns (BSA 31+/-25%, range 2-80%) were studied. Fluid resuscitation was based on the Parkland's formula. Protein loss into the gastrointestinal tract was measured using faecal alpha(1)-antitrypsin (FA-1-AT) concentrations. Serial measurements of serum protein and albumin concentrations were performed. Results: Fourteen patients demonstrated elevations in FA-1-AT levels. The mean peak FA-1-AT level was 3.6+/-4.2 mg/g dry weight of stool. Two patients demonstrated elevated FA-1-AT excretion 1.5 months and 3 months after the bums. There was a good correlation between burn size and FA-1-AT excretion (R-2=0.40). Conclusions: Protein losing enteropathy was demonstrable in patients with major burns. The magnitude of this phenomenon appears to be proportional to the burns size.

The impact of prolonged fasting during aestivation on the structure of the small intestine in the green-striped burrowing frog, Cyclorana alboguttata

The effects of short-term fasting and prolonged fasting during aestivation on the morphology of the proximal small intestine and associated organs were investigated in the green-striped burrowing frog, Cyclorana alboguttata (Anura: Hylidae). Animals were fasted for 1 week while active or for 3-9 months during aestivation. Short-duration fasting (1 week) had little effect on the morphology of the small intestine, whilst prolonged fasting during aestivation induced marked enteropathy including reductions in intestinal mass, length and diameter, longitudinal fold height and tunica muscularis thickness. Enterocyte morphology was also affected markedly by prolonged fasting: enterocyte cross-sectional area and microvillous height were reduced during aestivation, intercellular spaces were visibly reduced and the prevalence of lymphocytes amongst enterocytes was increased. Mitochondria and nuclei were also affected by 9 months of aestivation with major disruptions to mitochondrial cristae and increased clumping of nuclear material and increased infolding of the nuclear envelope. The present study demonstrates that the intestine of an aestivating frog responds to prolonged food deprivation during aestivation by reducing in size, presumably to reduce the energy expenditure of the organ.