Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10.

Neural tube defects (NTDs) are the second most common birth defects (1 in 1000 live births) in the world. Periconceptional maternal folate supplementation reduces NTD risk by 50-70%; however, studies of folate related and other developmental genes in humans have failed to definitively identify a major causal gene for NTD. The aetiology of NTDs remains unknown and both genetic and environmental factors are implicated. We present findings from a microsatellite based screen of 44 multiplex pedigrees ascertained through the NTD Collaborative Group. For the linkage analysis, we defined our phenotype narrowly by considering individuals with a lumbosacral level myelomeningocele as affected, then we expanded the phenotype to include all types of NTDs. Two point parametric analyses were performed using VITESSE and HOMOG. Multipoint parametric and nonparametric analyses were performed using ALLEGRO. Initial results identified chromosomes 7 and 10, both with maximum parametric multipoint lod scores (Mlod) >2.0. Chromosome 7 produced the highest score in the 24 cM interval between D7S3056 and D7S3051 (parametric Mlod 2.45; nonparametric Mlod 1.89). Further investigation demonstrated that results on chromosome 7 were being primarily driven by a single large pedigree (parametric Mlod 2.40). When this family was removed from analysis, chromosome 10 was the most interesting region, with a peak Mlod of 2.25 at D10S1731. Based on mouse human synteny, two candidate genes (Meox2, Twist1) were identified on chromosome 7. A review of public databases revealed three biologically plausible candidates (FGFR2, GFRA1, Pax2) on chromosome 10. The results from this screen provide valuable positional data for prioritisation of candidate gene assessment in future studies of NTDs.

Short- and long-term survival and prevalence of postoperative ileus after small intestinal surgery in the horse.

The records of 74 horses that recovered from anaesthesia after surgery for a small intestinal lesion from 1994 to 1999 were reviewed. Sixty-three horses (85%) had a strangulating lesion and 43 of these (68%) had a resection and anastomosis. Four of 11 horses (36%) without a strangulating lesion had a resection and anastomosis. Sixty-three horses (85%) survived to discharge, with a survival rate of 53/63 in horses with a strangulating lesion (84%) and 10/11 (91%) in others. For all lesions, short-term survival for all end-to-end anastomoses (91%; 21/23) and for no resection (92%; 23/25) were superior (P < 0.05) to survival for jejunocaecal anastomosis (76%; 19/25). Fourteen horses (19%) had a repeat abdominal surgery during hospitalisation; 9 of these (64%) survived short-term. Postoperative ileus developed in 7/70 horses (10%) after surgery for a problem other than proximal enteritis, and all had a strangulating lesion. Postoperative ileus (POI) was more likely after a jejunocaecostomy than after other procedures, and did not develop after a jejunojejunostomy. Survival > 7 months was 52/69 (75%) and for > 12 months was 39/57 (68%). The estimated prevalence of adhesions was 13%. Short-term survival was poorest in horses that had a jejunocaecostomy, but long-term survival was less affected by the anastomosis used. The sharpest decline in survival was during the first postoperative week and postoperative mortality then declined over time after surgery. A postoperative protocol that allowed early postoperative feeding was well tolerated. The results confirm that the overall prognosis after small intestinal surgery in horses is improved over earlier findings.

Parietal hernia of the small intestine into the epiploic foramen of a horse.

A 12-year old 573-kg (1,261-lb) Quarter Horse gelding was referred with colic of 12 hours' duration and with poor response to medical treatment. On the basis of physical and laboratory findings, a pelvic flexure impaction was suspected. The horse was treated medically. Because signs of mild abdominal pain persisted and the heart rate had increased, an exploratory celiotomy was performed 30 hours after signs of colic were first noticed. At surgery, the ileum was found partially entrapped within the epiploic foramen, in a left-to-right direction, to form a parietal hernia. The entrapped intestinal segment was reduced but not resected, and the horse recovered fully. In retrospect, the delay before surgery in this horse was tolerated because this was a parietal hernia and, therefore, did not cause complete ileal obstruction. This horse had an unusual form of small-intestinal strangulation in the epiploic foramen that might not cause sufficient obstruction initially to allow early detection.

Failure of psyllium mucilloid to hasten evaluation of sand from the equine large intestine.

OBJECTIVE: To examine the efficacy of psyllium mucilloid in evacuating sand from the equine large intestine. ANIMALS: 12 clinically healthy pony geldings. PROCEDURE: Twelve ponies were assigned to 2 groups of six each. One group was treated with psyllium and the second was a control group. All ponies had an exploratory celiotomy and 10 g/kg body weight of sand was placed into the cecum. Ponies were fed a grain mixture alone at 1 g/kg (controls), a grain mixture plus psyllium pellets, each at 1 g/kg body weight (3 ponies), or fed a grain mixture and given psyllium powder by nasogastric tube at 1 g/kg body weight divided into two daily doses in 3 L of water (3 ponies). Radiographs were taken on days 1 (3 per group), 5 (all ponies), and 11 (3 per group) to monitor sand transit through the large intestine. Ponies were euthanatized 11 days after surgery. Sand was collected from the contents of the cecum, ventral colon, dorsal colon, and small colon. Dry weight of the recovered sand was compared between the two treatment groups as a percentage of the dry weight of sand placed in the cecum. RESULTS: No significant differences were detected in the mean percentage of sand recovered between the two treatment groups (P < .05), with 39.2% recovered in ponies treated with psyllium and 27.4% recovered in control ponies. CLINICAL RELEVANCE: Psyllium mucilloid had no apparent effect on sand evacuation from the equine large intestine. When intake of sand is prevented, the equine large intestine can reduce and possibly eliminate its sand burden.