Micro-duplications of 1q32.1 associated with neurodevelopmental delay.

Distal partial trisomies involving the region 1q32 have been associated with dysmorphic features and developmental delay [1-11]. To further define the critical region for developmental delay and to investigate the genotype-phenotype association of 1q trisomy syndrome, we report two patients with much smaller (3 Mb and 3.5 Mb in size) trisomic regions on 1q32.1. The two micro-duplications largely overlap and both patients exhibited cognitive and motor delays. Case 1 is a 5-year-old boy with global developmental delay, behavioral problems, pervasive developmental disorder not otherwise specified (PDD-NOS), staring spells, headaches, and paresthesias. Case 2 is a 14-year-old girl with seizures, cognitive and motor difficulties, and minor dysmorphic features. These two cases suggest that 1q32.1 region on distal arm of 1q and genes involved are critical to cognitive and motor development in a gene dosage sensitive manner and that other neurological features are variable within this syndrome.

Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice.

Approximately 40-50% of individuals affected by tuberous sclerosis (TSC) develop autism spectrum disorders (ASDs). One possible explanation for this partial penetrance is an interaction between TSC gene mutations and other risk factors such as gestational immune activation. In this study, we report the interactive effects of these two ASD risk factors in a mouse model of TSC. Combined, but not single, exposure had adverse effects on intrauterine survival. Additionally, provisional results suggest that these factors synergize to disrupt social approach behavior in adult mice. Moreover, studies in human populations are consistent with an interaction between high seasonal flu activity in late gestation and TSC mutations in ASD. Taken together, our studies raise the possibility of a gene × environment interaction between heterozygous TSC gene mutations and gestational immune activation in the pathogenesis of TSC-related ASD.

Prevalence of gastrointestinal helminths in domestic bison herds in northwestern Alberta.

A fecal survey was conducted to determine the prevalence of gastrointestinal helminth eggs found in 431 domestic bison from 22 herds. Eggs detected (percent of herds affected in parentheses) were: strongyle-type (100%), Capillaria sp. (63.6%), Moniezia sp. (54.6%), Nematodirus sp. (50%), Trichuris sp. (40.9%), and Strongyloides sp. (9.1%).

Neurological symptoms associated with sarcocystosis in adult sheep.

Four mature ewes developed mild neurological symptoms. Histological examination revealed a nonsuppurative encephalitis and myelitis associated with protozoan cysts identified as Sarcocystis spp. by immunoperoxidase. The mild clinical signs and apparent recovery of 1 ewe suggest that neurological disease caused by Sarcocystis spp. may be more common than indicated by the infrequency of reports.

The role of evaluation in clinical practice: overview and group treatment illustration.

A variety of intrinsic and extrinsic factors exert pressure on clinicians and researchers to forge a more effective alliance in their mutual efforts to understand treatment process and outcome. The authors provide a general framework and a specific group-therapy model to demonstrate how research measures can facilitate this integration and thereby improve the quality of service delivery. We divide treatment into four phases: negotiation, retention, enhancement, and evaluation, and illustrate how psychotherapists can use research instruments to overcome problems at each stage of intervention.

Bovine stephanofilarial dermatitis in alberta.

The nematode, Stephanofilaria stilesi was recovered from two mature beef cattle in Alberta. The appearance of the skin and the histological lesions are described. The life cycle of the parasite and the development of lesions are reviewed.

Klossiella equi in the kidneys of a horse.

The protozoan, Klossiella equi was found in the kidneys of an aged Shetland mare raised in the Fredericton area of New Brunswick. This is the first published report of K. equi in a horse in Canada. The microscopic appearance of the parasite in the kidney is described. A brief discussion of other conditions seen in the horse is also presented.

Sylvatic trichinosis in Alberta.

Results of surveys for Trichinella sp. in several species of wildlife in Alberta suggest that infection is limited to wolves (Canis lupus) in northern areas of the province and maintained by a wolf/wolf transmission.

Helminths recovered from black bears in the Peace River region of northwestern Alberta.

A total of 91 free-ranging black bears (Ursus americanus) from the Peace River region of northwestern Alberta was examined for helminths. Four species, Baylisascaris transfuga, Taenia krabbei, Taenia hydatigena and Dirofilaria ursi, were found. None of the bears was heavily infected. Results are compared with other similar North American surveys.