Ultrastructural mitochondrial alterations in equine myopathies of unknown origin.

BACKGROUND: Very few mitochondrial myopathies have been described in horses. OBJECTIVE: To examine the ultrastructure of muscle mitochondria in equine cases of myopathy of unknown origin. MATERIALS & METHODS: Biopsies of vastus lateralis of the Musculus quadriceps femoris were taken predominantly immediately post mortem and processed for transmission electron microscopy. As a result, electron micrographs of 90 horses in total were available for analysis comprising 4 control horses, 16 horses suffering from myopathy and 70 otherwise diseased horses. RESULTS: Following a thorough clinical and laboratory work-up, four out of five patients that did not fit into the usual algorithm to detect known causes of myopathy showed ultrastructural mitochondrial alterations. Small mitochondria with zones with complete disruption of cristae associated with lactic acidemia were detected in a 17-year-old pony mare, extremely long and slender mitochondria with longitudinal cristae in a 5-year-old Quarter horse stallion, a mixture of irregular extremely large mitochondria (measuring 2500 by 800 nm) next to smaller ones in an 8-year-old Hanoverian mare and round mitochondria with only few cristae in a 11-year-old pony gelding. It remains uncertain whether the subsarcolemmal mitochondrial accumulations observed in the fifth patient have any pathological significance. CONCLUSIONS: Ultrastructural alterations in mitochondria were detected in at least four horses. To conclude that these are due to mitochondrial dysfuntions, biochemical tests should be performed. PRACTICAL APPLICATIONS: The possibility of a mitochondrial myopathy should be included in the differential diagnosis of muscle weakness.

Evaluation of candidate probiotic strains for gilthead sea bream larvae (Sparus aurata) using an in vivo approach.

AIMS: The aim of this study was to evaluate the effect of six bacterial strains on gilthead sea bream larvae (Sparus aurata). METHODS AND RESULTS: Six bacterial strains isolated from well-performing live food cultures were identified by sequencing fragments of their 16s rDNA genome to the genus level as Cytophaga sp., Roseobacter sp., Ruergeria sp., Paracoccus sp., Aeromonas sp. and Shewanella sp. Survival rates of gilthead sea bream larvae transferred to seawater added these bacterial strains at concentrations of 6 +/- 0.3 x 10(5) bacteria ml(-1) were similar to those of larvae transferred to sterilized seawater and showed an average of 86% at 9 days after hatching, whereas, survival rates of larvae transferred to filtered seawater were lower (P < 0.05), and showed an average of 39%, 9 days after hatching. CONCLUSION: Several bacterial strains isolated from well-performing live food cultures showed a positive effect for sea bream larvae when compared with filtered seawater. SIGNIFICANCE AND IMPACT OF THE STUDY: The approach used in this study could be applied as an in vivo evaluation method of candidate probiotic strains used in the rearing of marine fish larvae.

Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease.

A positional cloning effort in French Canadian families with Paget's disease of bone (PDB) resulted in the identification of a mutation in the sequestosome1 (SQSTM1) gene in a subset of both familial and sporadic PDB cases. This was confirmed in samples of mainly United Kingdom (UK) origin. In this study, we performed both mutation analysis and association studies in order to evaluate the role of this gene in a collection of isolated Belgian PDB patients. A mutation in the SQSTM1 gene was found in only 6 of 111 patients (5.4%). In all cases it involves the P392L mutation, previously shown to be common in both familial and sporadic cases. To perform association studies, we selected 8 single nucleotide polymorphisms (SNPs) and looked for linkage disequilibrium (LD) between these. Haplotype analysis indicated that typing of 3 Tag SNPs (IVS1 + 633A/C, IVS5 - 23A/G, and 976A/G) enables us to identify the most common haplotypes. Association studies for the 3 selected SNPs, based on 105 PDB cases without a SQSTM1 mutation and 159 control individuals, did not support a possible influence of natural variants in the SQSTM1 gene either on the pathogenesis of PDB or on the disease severity. In conclusion, our study confirms that the P392L mutation is a recurrent mutation causing PDB in different populations. We were not able to show an association between SQSTM1 polymorphisms and PDB in our population but this clearly needs to be extended to other populations. The presented identification of haplotype Tag SNPs will be of major help for such studies.

Actinomycosis as a rare cause of vertebral osteolysis.

Actinomycosis is an uncommon entity caused by an anaerobic bacterium, Actinomyces species, most often Actinomyces israelii. We present a patient who suffered from progressive lumbar pain and high fever. Actinomycosis infection was diagnosed after extensive radiological and pathological evaluation. Treatment with i.v. ampicillin was started, followed by oral antibiotics for one year. This paper gives an overview of the different clinical presentations of actinomycosis infection, with special attention to the skeletal involvement. We also discuss diagnosis and treatment. The clinical picture can mimic several other conditions, such as lymphomas. Delay in diagnosis and treatment can significantly worsen the condition of the patient.

A Two-stage bipodal screening model for universal neonatal hearing screening.

OBJECTIVE: A model is proposed for universal neonatal hearing screening. METHODS: The screening model is two-staged because it consists of a first test and, in case of failure (1.4% of the subjects), of a retest 3 weeks later. It is bipodal because it involves both the hospital audiologic department and a central Well Baby Organization. The idea is to have a maximal number of newborns tested at the maternity by trained audiologists and to have the Well Baby Organization trace and chase the missing subjects. The model has been evaluated during 1 calendar year (1999) in a maternity with 2,012 newborns. RESULT: The result is a coverage of 99.3%. Most newborns (97.3%) were tested at the maternity ward with a total time investment of less than 15 minutes per child. The actual test time is 2 minutes, 12 seconds (median value). The Well Baby Organization keeps track of all the results and has to test no more than 2% of the newborns. Sensitivity and specificity were not the primary outcomes of this evaluation, but they were similar to those of a previous study evaluating the screen procedure on a larger scale, giving a sensitivity of approximately 100% and a false alarm rate of 1/1,000. CONCLUSION: These figures demonstrate that universal neonatal hearing screening is feasible within the existing health care structure, with unprecedented coverage, sensitivity, and specificity.

Contralateral suppression of transient evoked otoacoustic emissions: normative data for a clinical test set-up.

HYPOTHESIS: Contralateral suppression of transient evoked otoacoustic emissions (TEOAEs) can be used in a clinical set-up using a procedure based on a unique and robust parameter to quantify the magnitude of suppression for a subject. BACKGROUND: TEOAEs can be suppressed by delivering contralateral white noise (WN). This suppression is thought to be mediated via the efferent nerve fibers that innervate the outer hair cells. The ipsilateral TEOAE-eliciting click stimulus level and the contralateral WN level have a strong impact on the recorded level of suppression. METHODS: TEOAEs were recorded using the nonlinear stimulation mode in two conditions (with and without contralateral WN). An optimal TEOAE-eliciting click stimulus level and contralateral WN level were defined to obtain a unique and robust parameter to quantify the magnitude of suppression. RESULTS: Suppression of TEOAEs with contralateral WN can be measured in a clinical set-up using nonlinear stimulation, and the level of suppression is of the same order of magnitude as measures using the linear stimulation recording mode. The level of suppression appears to be "locked" to the interaural difference between ipsilateral TEOAE-eliciting broadband click stimulus level and the contralateral WN level. CONCLUSIONS: A procedure is proposed to record contralateral suppression in a clinical set-up, and normative data are given for a normal-hearing population (n = 60).

Neonatal hearing screening with transient evoked otoacoustic emissions--retrospective analysis on performance parameters.

The present paper reports on the implementation of a maternity based neonatal hearing-screening program in a private hospital. A retrospective analysis is performed on the test pass rate, the coverage and the number of children that become lost to follow-up. The data show a steady learning curve with a time course of several years. In the current screening practice, the test pass rate is at 99.0%, the coverage is at 96% (birth rate of 2000 per annum) and almost no babies get lost to follow-up.

Neonatal hearing screening with transient evoked otoacoustic emissions: a learning curve.

The present paper reports on the implementation of a neonatal hearing screening programme in a private hospital in Belgium. A maternity-based neonatal hearing screening project with transient evoked otoacoustic emissions (TEOAEs) was started in 1993. The cost of the test was not covered by the public health insurance, so the parents had to pay the full cost for screening their child (approximately 30 Euro). Since 1993 the programme strategies have been changed on several occasions to improve the quality and efficacy. A retrospective analysis was performed on: (1) the test pass rate; (2) the coverage; and (3) the number of children who become 'Lost to follow-up' after failing the initial test. The data show a steady learning curve with a time course of several years. They also demonstrate that it is worthwhile and feasible to run a high-quality screening programme in a private establishment.

Neonatal hearing screening with otoacoustic emissions: an evaluation.

For several years now, it is possible to test the cochlear function immediately after birth in an easy way by means of click evoked otoacoustic emissions. Thanks to this early detection, hearing aid fitting and appropriate hearing rehabilitation can now be started at a very young age, which significantly enhances the possibility of integration of the congenitally hard of hearing in society. An international consensus is growing to endorse a universal neonatal hearing screening in western societies. Setting up screening programs necessitates good preparation, continuous quality control and regular analysis of procedures and results. The present paper evaluates the procedure as organised from January 1993 till December 1994 in the University ENT-Department of the Sint-Augustinus Hospital. Of the 907 included neonates who were considered not to be at risk for hearing loss, 81% passed the test immediately, and 93% passed after maximum 3 tests. Some changes in the initial procedure increased the prevalence of emissions from 69% to 84%. The practical problems of the screening program and especially the importance of a stringent follow-up procedure in case of failure, are discussed.