Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.

OBJECTIVE: To describe the current treatment; clinical, biochemical, and molecular findings; and clinical follow-up of patients with aromatic l-amino acid decarboxylase (AADC) deficiency. METHOD: Clinical and biochemical data of 78 patients with AADC deficiency were tabulated in a database of pediatric neurotransmitter disorders (JAKE). A total of 46 patients have been previously reported; 32 patients are described for the first time. RESULTS: In 96% of AADC-deficient patients, symptoms (hypotonia 95%, oculogyric crises 86%, and developmental retardation 63%) became clinically evident during infancy or childhood. Laboratory diagnosis is based on typical CSF markers (low homovanillic acid, 5-hydroxyindoleacidic acid, and 3-methoxy-4-hydroxyphenolglycole, and elevated 3-O-methyl-l-dopa, l-dopa, and 5-hydroxytryptophan), absent plasma AADC activity, or elevated urinary vanillactic acid. A total of 24 mutations in the DDC gene were detected in 49 patients (8 reported for the first time: p.L38P, p.Y79C, p.A110Q, p.G123R, p.I42fs, c.876G>A, p.R412W, p.I433fs) with IVS6+ 4A>T being the most common one (allele frequency 45%). CONCLUSION: Based on clinical symptoms, CSF neurotransmitters profile is highly indicative for the diagnosis of aromatic l-amino acid decarboxylase deficiency. Treatment options are limited, in many cases not beneficial, and prognosis is uncertain. Only 15 patients with a relatively mild form clearly improved on a combined therapy with pyridoxine (B6)/pyridoxal phosphate, dopamine agonists, and monoamine oxidase B inhibitors.

Prevalence of enteric zoonotic organisms in cats.

OBJECTIVE: To determine prevalence of enteric zoonotic organisms in cats in north-central Colorado. DESIGN: Prospective study. SAMPLE POPULATION: Serum and fecal samples from 87 cats with diarrhea, 106 cats without diarrhea, and 12 cats for which fecal consistency was unknown. PROCEDURES: Samples were obtained from client-owned cats and cats at a humane society shelter. Serum was assayed for feline leukemia virus antigen and antibodies against feline immunodeficiency virus, IgM antibodies against Toxoplasma gondii, and IgG antibodies against T gondii and Cryptosporidium parvum. Microscopic examination of unstained feces was performed after centrifugation in a zinc sulfate solution, thin fecal smears were stained with acid fast stain and examined for C parvum, and bacteriologic culture of feces was used to detect aerobic and anaerobic bacteria. RESULTS: Enteric zoonotic organisms were detected in feces from 27 of 206 (13.1%) cats and included C parvum (5.4%), Giardia spp (2.4%). Toxocara cati (3.9%), Salmonella enterica serotype Typhimurium (1.0%), and Campylobacter jejuni (1.0%); each organism was detected in samples from cats with and without diarrhea. Although differences between groups were not significant, a higher proportion of shelter cats (18.2%) had enteric zoonotic organisms than client-owned cats (10.1%). CONCLUSIONS AND CLINICAL RELEVANCE: Enteric zoonotic organisms were detected in feces of 13.1% of cats, suggesting that cats, particularly those in homes of immunocompromised humans, should be evaluated for enteric zoonotic organisms.

Bovine trichomoniasis: Results of a slaughter survey in Colorado and Nebraska.

A total of 2,909 bulls was cultured for the presence of Trichomonas fetus at slaughter at 4 abattoirs in Colorado and Nebraska. Samples were collected using the dry pipette preputial scraping technique and were transported to diagnostic laboratories within 24 h. Of the bulls cultured, 5 were positive. The state of the last origin for each animal was Kansas, 1 bull, Montana, 1 bull, Nebraska, 1 bull, and Utah, 2 bulls. These results indicate and incidence of less than 1% (0.172%) of trichomoniasis in the populations tested, even in the states of Colorado and Nebraska where the larger numbers of bulls were cultured.