Association of Clinical Biochemists in Ireland 32nd Annual Symposium

Mitochondrial respiratory chain disorders account for significant and varied presentations in paediatric practice. The true prevalence of these disorders in the paediatric population is still not well documented with predicted geographic variation. We report a retrospective analysis over a seven year period of cases presenting to a tertiary care centre and associated clinical features. The overall prevalence of mitochondrial disorders in our population is higher than expected (1/9,000 births), explained in part by multiple presentations in a consanguineous subgroup of the population (Irish travellers).

The harmonics-to-noise ratio (HNR) of the voiced speech signal has implicitly been used to infer information regarding the turbulent noise level at the glottis. However, two problems exist for inferring glottal noise attributes from the HNR of the speech wave form: (i) the measure is fundamental frequency (f0) dependent for equal levels of glottal noise, and (ii) any deviation from signal periodicity affects the ratio, not just turbulent noise. An alternative harmonics-to-noise ratio formulation [glottal related HNR (GHNR')] is proposed to overcome the former problem. In GHNR' a mean over the spectral range of interest of the HNRs at specific harmonic/between-harmonic frequencies (expressed in linear scale) is calculated. For the latter issue [(ii)] two spectral tilt measures are shown, using synthesis data, to be sensitive to glottal noise while at the same time being comparatively insensitive to other glottal aperiodicities. The theoretical development predicts that the spectral tilt measures reduce as noise levels increase. A conventional HNR estimator, GHNR' and two spectral tilt measures are applied to a data set of 13 pathological and 12 normal voice samples. One of the tilt measures and GHNR' are shown to provide statistically significant differentiating power over a conventional HNR estimator.

The aim of this study was to look at the visual outcome and treatment complications of children diagnosed with Retinoblastoma during the years 1985-2003 inclusive. A retrospective review of all patients records was performed. Patient characteristics, treatment methods and complications were recorded. Twenty eight children presented to Temple street Hospital between 1985-2003. Six of these infants had bilateral tumours. The mean age at presentation was 23.7 months. Sixty-nine percent presented with Leucocoria, of these 33% also had a squint. The mean duration of symptoms was only known in 58% and this figure was approximately 19.8 months. Enucleation was performed in 24 eyes of 24 patients. Three patients required adjuvant chemotherapy post enucleation. Two eyes was treated with external beam radiation and one eye with plaque radiotherapy. One eye (second eye) was treated with systemic chemotherapy and radiation. Five eyes of three patients were treated with systemic chemotherapy followed by adjuvant Argon laser, cryotherapy and diode laser to each eye.The complications of each treatment group was recorded. The visual outcome in the salvaged eyes was favourable. There were no deaths recorded. Though chemotherapy with adjuvant local treatments provide adequate treatment for early tumours, enucleation still plays a major role in the treatment of Retinoblastoma. The total eye salvage rate in this study was 29% with an enucleation rate of 90% in unilateral cases and 33% in bilateral cases. Sixty-six percent of bilateral eyes affected were salvaged. Seventy-one percent of tumours were diagnosed after a parent noticed a gross abnormality of the eye. This highlights the possible need for screening for retinoblastoma in the infant population.

Acute mastoiditis, a destructive bacterial infection of the mastoid bone and air cell system, is relatively uncommon today but remains a potentially serious condition. There is a lack of information in the literature regarding the long term otological problems that children may face following an episode of this condition.

American Academy of Dermatology Meeting

Intensive Care Society of Ireland

International study day on Congenital Diaphragmatic Hernia National Maternity Hospital Holles St