Genetic analysis: a diagnostic tool for primary hyperoxaluria type 1

Pediatric Nephrology -     

Mycophenolate mofetil-induced reversal of glomerular filtration loss in children with chronic allograft nephropathy

BACKGROUND: Mycophenolate mofetil (MMF) has been used for the treatment of chronic allograft nephropathy (CAN) in adults with inconsistent results, but data in children are rare. To evaluate its impact on advanced CAN, we studied changes in glomerular filtration rate (GFR) and the correlation of GFR changes to histology. METHODS: Thirty-six children (13.1+/-3.6 years) with a progressive decline in GFR of 16.9+/-12.4 mL/min per 1.73 m2/year and biopsy confirmed CAN 4.3+/-2.9 years after transplantation were studied. MMF was added to conventional immunosuppression (IS) consisting of cyclosporine (CsA) and prednisolone (n=26) or tacrolimus (n=1) or replaced azathioprine in triple IS (n=9). Alterations of GFR were correlated to histologic guidelines according to the Banff chronic score (BCS). RESULTS: One year after conversion, 22 (61%) children showed a rise in GFR (7.5+/-6 mL/min per 1.73 m2), 8 (22%) remained stable, and 6 (17%) showed a further decline of GFR (7.4+/-2 mL/min per 1.73 m2). Mean CsA trough levels were 114 ng/mL before and 98 ng/mL 1 year after conversion. MMF side effects required dose reduction in 14 children. Children responding to MMF with increasing GFR showed a trend toward less fibrosis, less incidence of vasculopathy, and transplant glomerulopathy in the initial biopsy but had a similar incidence of borderline tubulitis compared with the other groups. CONCLUSIONS: Cotreatment with MMF reversed the progressive loss of GFR in approximately two thirds of children with CAN for at least 1 year. Less chronicity signs in histology seem to indicate a more favorable response to treatment.     

Audiotaped social comparison information for cancer patients undergoing radiotherapy: differential effects of procedural,emotional and coping information

The present study focused on the effects of social comparison information on subjective understanding of radiation therapy, validation of emotions, and self-efficacy of cancer patients undergoing radiation therapy. The effects of three different audiotapes, containing different kinds of social comparison information, were examined. On the procedural tape a man and woman discussed their illness and radiation treatment, on the emotion tape they focused on the emotional aspects of these issues, and on the coping tape they focused on the way they had been coping. The effects of these tapes were measured on subjective understanding about radiation therapy, validation and recognition of emotions, self-efficacy, and mood. The results indicate positive effects of the tapes, especially of the procedural and the coping tape. These audiotapes increased understanding of radiation therapy, self-efficacy and the feeling of validation of emotions. Therefore, these tapes may be an important supplement to existing patient education information. Possible explanations and practical implications are discussed.     

Familial melanoma: a complex disorder leading to controversy on DNA testing

The initial enthusiasm generated by the discovery of the first susceptibility gene found for melanoma has slightly dampened over recent years. For the majority of melanoma families the underlying gene defect is still not known, so the search for other melanoma genes is continuing. Also, the increased risk of melanoma does not seem to be restricted to mutation carriers, but is present even in non-mutation carriers in melanoma families. The underlying defect of familial melanoma is less straightforward than previously thought; both environmental and hereditary risk modifiers intermingle in a perplexing way. This makes familial melanoma a complex disorder which deserves the close attention of both clinicians and researchers, especially as the opinion on gene testing in familial melanoma has not yet achieved consensus. On the one hand, there is a rising demand from families for genetic testing; on the other hand, there is the clinicians' concern about the value of such testing. This revised version was published online in August 2006 with corrections to the Cover Date.     

Patterns of Knemidokoptes jamaicensis (Acari: Knemidokoptidae) infestations among eight new avian hosts in the Dominican Republic

The ectoparasitic mite Knemidokoptes jamaicensis Turk burrows into the cornified epithelium of the legs and feet of Passeriform birds and has been reported from 12 species of North American birds. Here we establish new host and distribution records for K. jamaicensis from eight species of birds from three habitats in the Dominican Republic. These species include Hispaniolan pewee (Contopus hispaniolensis Bryant), northern mockingbird (Mimus polyglottos L.), Cape May warbler (Dendoica tigrina Gmelin), prairie warbler (Dendroica discolor Vieillot), palm warbler (Dendroica palmarum Gmelin), green-tailed warbler (Microligea palustris Cory), black-crowned palm tanager (Phaenicophilus palmarum L.), and Greater Antillean bullfinch (Loxigilla violacea L.). Rates of infestation were as great as 18.2% but varied between species and habitats. Mites were far more common in the dry desert thorn scrub than they were in higher elevation and more moist habitats, despite the fact that many of the affected species had distributions that spanned multiple habitat types. Results suggest that the abundance of scaley-leg mites is controlled by the abundance of suitable host species and by specific ecological conditions that promote transmission.     

IFN-gamma is not an essential mediator of murine antibody responses in vitro

We have used purified murine gamma-interferon (Mu IFN-gamma) and anti-Mu IFN-gamma monoclonal antibody to study the participation of gamma-interferon (IFN-gamma) in in vitro plaque-forming cell (PFC) responses to antigen. We have studied several supernatants with T-cell replacing factor (TRF) activity as well as helper T-cell dependent anti-sheep red blood cells (SRBC) PFC responses. Our findings demonstrate that neither TRF- nor T-cell mediated responses are critically dependent upon IFN-gamma.     

Predicting the effect of psychoeducational group treatment for hypochondriasis

Both individual cognitive‐behavioural therapy and short‐term psychoeducational courses have shown to be effective in reducing hypochondriacal complaints. However, it is unknown which patients benefit from treatment. The aim of the present study is to explore which variables predict treatment outcome in a pooled group of 140 participants of a psychoeducational course. Predictor variables were a) pretreatment hypochondriasis, b) age, c) gender, d) level of education, e) duration of hypochondriacal complaints, f) severity of depressive complaints, g) severity of trait anxiety, and h) treatment expectation. The target scores were residual gain scores of hypochondriacal complaints. Results showed that more severe hypochondriacal complaints at pre‐ and post‐test correlated significantly with more severe hypochondriacal complaints later. Furthermore, higher trait anxiety and older age predicted less treatment gain in hypochondriacal complaints. More research of which variables can predict treatment outcome is needed. Copyright © 2008 John Wiley & Sons, Ltd.     

Proboscis lateralis

Proboscis lateralis is a rare craniofacial malformation for which no embryological basis has been established. The condition presents with a tubular, nose like structure arising from the medial canthal area or orbit roof. We describe here such a case that was surgically treated.     

Integrated Knowledge Translation Guiding Principles for Conducting and Disseminating Spinal Cord Injury Research in Partnership

ObjectiveTo address a gap between spinal cord injury (SCI) research and practice by rigorously and systematically co-developing integrated knowledge translation (IKT) guiding principles for conducting and disseminating SCI research in partnership with research users.DesignThe process was guided by the internationally accepted The Appraisal of Guidelines for REsearch & Evaluation (AGREE) II Instrument for evaluating the development of clinical practice guidelines.SettingNorth American SCI research system (ie, SCI researchers, research users, funders).ParticipantsThe multidisciplinary expert panel (n=17) and end users (n=35) included individuals from a North American partnership of SCI researchers, research users, and funders who have expertise in research partnerships.InterventionsNot applicable.Main Outcome MeasuresClarity, usefulness, and appropriateness of the principles.ResultsData regarding 125 principles of partnered research were systematically collected from 4 sources (review of reviews, scoping review, interviews, Delphi consensus exercise). A multidisciplinary expert panel held a 2-day meeting to establish consensus, select guiding principles, and draft the guidance. The panel reached 100% consensus on the principles and guidance document. The final document includes a preamble, 8 guiding principles, and a glossary. Survey data showed that the principles and guidance document were perceived by potential end users as clear, useful, and appropriate.ConclusionsThe IKT Guiding Principles represent the first rigorously co-developed, consensus-based guidance to support meaningful SCI research partnerships. The principles are a foundational tool with the potential to improve the relevance and impact of SCI research, mitigate tokenism, and advance the science of IKT.