MUCOPOLYSACCHARIDOSIS II (MPS II) IN A FREE-LIVING KAKA (NESTOR MERIDIONALIS) IN NEW ZEALAND.

A lysosomal storage disease, identified as a mucopolysaccharidosis (MPS), was diagnosed in a free-living Kaka (Nestor meridionalis), an endemic New Zealand parrot, which exhibited weakness, incoordination, and seizures. Histopathology showed typical colloid-like cytoplasmic inclusions in Purkinje cells and many other neurons throughout the brain. Electron microscopy revealed that storage bodies contained a variety of linear, curved, or circular membranous profiles and electron-dense bodies. Because the bird came from a small isolated population of Kaka in the northern South Island, a genetic cause was deemed likely. Tandem mass spectrometry revealed increased levels of heparan sulfate-derived disaccharides in the brain and liver compared with tissues from controls. Enzymatic assays documented low levels of iduronate-2-sulfatase activity, which causes a lysosomal storage disorder called MPS type II or Hunter syndrome. A captive breeding program is currently in progress, and the possibility of detecting carriers of this disorder warrants further investigation.

The benefit of foresight? An ethical evaluation of predictive testing for psychosis in clinical practice.

Risk prediction for psychosis has advanced to the stage at which it could feasibly become a clinical reality. Neuroimaging biomarkers play a central role in many risk prediction models. Using such models to predict the likelihood of transition to psychosis in individuals known to be at high risk has the potential to meaningfully improve outcomes, principally through facilitating early intervention. However, this compelling benefit must be evaluated in light of the broader ethical ramifications of this prospective development in clinical practice. This paper advances ethical discussion in the field in two ways: firstly, through in-depth consideration of the distinctive implications of the clinical application of predictive tools; and, secondly, by evaluating the manner in which newer predictive models incorporating neuroimaging alter the ethical landscape. We outline the current state of the science of predictive testing for psychosis, with a particular focus on emerging neuroimaging biomarkers. We then proceed to ethical analysis employing the four principles of biomedical ethics as a conceptual framework. We conclude with a call for scientific advancement to proceed in tandem with ethical consideration, informed by empirical study of the views of high risk individuals and their families. This collaborative approach will help ensure that predictive testing progresses in an ethically acceptable manner that minimizes potential adverse effects and maximizes meaningful benefits for those at high risk of psychosis.

Imaging and Genetic Biomarkers Predicting Transition to Psychosis.

The search for diagnostic and prognostic biomarkers in schizophrenia care and treatment is the focus of many within the research community. Longitudinal cohorts of patients presenting at elevated genetic and clinical risk have provided a wealth of data that has informed our understanding of the development of schizophrenia and related psychotic disorders.Imaging follow-up of high-risk cohorts has demonstrated changes in cerebral grey matter of those that eventually transition to schizophrenia that predate the onset of symptoms and evolve over the course of illness. Longitudinal follow-up studies demonstrate that observed grey matter changes can be employed to differentiate those who will transition to schizophrenia from those who will not prior to the onset of the disorder.In recent years our understanding of the genetic makeup of schizophrenia has advanced significantly. The development of modern analysis techniques offers researchers the ability to objectively quantify genetic risk; these have been successfully applied within a high-risk paradigm to assist in differentiating between high-risk individuals who will subsequently become unwell and those who will not.This chapter will discuss the application of imaging and genetic biomarkers within high-risk groups to predict future transition to schizophrenia and related psychotic disorders. We aim to provide an overview of current approaches focussing on grey matter changes that are predictive of future transition to illness, the developing field of genetic risk scores and other methods being developed to aid clinicians in diagnosis and prognosis.

DIPHTHERITIC STOMATITIS IN YELLOW-EYED PENGUINS (MEGADYPTES ANTIPODES) IN NEW ZEALAND.

Diphtheritic stomatitis is a seasonal disease that has been recognized as a syndrome in Yellow-eyed Penguin ( Megadyptes antipodes ) chicks in New Zealand for >10 yr. It was present in about 50% of 234 chicks examined since 2002 and is characterized by a thick serocellular exudate in the oral cavity of 1-4-wk-old chicks. The syndrome includes inanition, weight loss, and death in many affected birds. Microscopically, the lesions varied in severity. Most affected chicks had severe, locally extensive, ulcerative stomatitis with large amounts of exudate containing numerous bacteria; a smaller number had mild focal lesions with smaller amounts of exudate and bacteria. Although Corynebacterium amycolatum has been consistently isolated from the oral lesions, it was also present in the oral cavity of 34% of normal adult penguins and their chicks and is not known to possess diphtheritic toxins. A primary viral pathogen was therefore suspected, and intracytoplasmic inclusion bodies were occasionally seen in oral mucosal epithelial cells. No herpesvirus DNA was detected with PCR. Avipoxvirus DNA and an unidentified virus-like agent were detected in some early oral lesions, but could not be confirmed in subsequent testing. Electron microscopy on early affected epithelium with intracytoplasmic inclusion bodies was unrewarding. Our findings raise the possibility that the disease is caused by an unknown primary virus infection followed by secondary Corynebacterium invasion, but this requires confirmation. The means of transmission has not been established but insect vectors are suspected.

Assessment of reproductive tract disease in cats at risk for Tritrichomonas foetus infection.

OBJECTIVE: To determine whether Tritrichomonas foetus infection resides in reproductive tract tissues from cats housed for breeding and for which a high prevalence of colonic T foetus infection has been reported. ANIMALS: 61 purebred cats in 36 catteries undergoing elective ovariohysterectomy or castration and for which reproductive tract tissues, feces, and a reproductive history were obtained. PROCEDURES: Reproductive tract tissues were examined for T foetus via light microscopy, immunohistochemical analysis, and PCR assay. History of reproductive tract disease was examined to detect statistical associations with identified or reported exposure to colonic T foetus infection. RESULTS: 15 of 61 (25%) cats and 22 of 33 (67%) catteries were identified with active or reported T foetus infection. Light microscopic, immunohistochemical, or molecular evidence of T foetus infection of the reproductive tract was not detected in any cats, including 15 cats with colonic T foetus infection, 29 cats residing in a cattery in which T foetus-infected cats were identified, and 8 cats for which gross or light microscopic evidence of reproductive tract disease was identified. There were no differences in total number of litters, number of litters per breeding, kitten mortality rate, or birth defects between cats or catteries infected with T foetus and those for which T foetus infection was not identified. CONCLUSIONS AND CLINICAL RELEVANCE: No evidence of reproductive tract colonization by T foetus was detected in this study. Accordingly, it is unlikely that reproductive tract infection with T foetus plays an important role in overall disease transmission.