Morning compared to afternoon school-based exercise on cognitive function in adolescents.

PURPOSE: Adolescents may be less ready to learn in the mornings due to a propensity for waking up later. High-intensity interval exercise (HIIE) has been shown to acutely improve cognitive functioning in teenagers. This within-measures study explored whether the benefit of HIIE differs when delivered in the morning or afternoon. METHODS: 37 teenagers (19 boys, 13.7 ± 0.4 years) each completed 3 trials in school; morning HIIE (MORN), afternoon HIIE (AFTER) and a no-exercise control trial (CON). The HIIE involved 10x10 second sprints, interspersed by 50 s of walking. Cognitive function was assessed using a battery of computerised tasks four times over the course of the day. RESULTS: Z scores for reaction time, but not proportion of correct responses, were improved 45 min post exercise in the MORN trial (P < 0.01, d = 0.47), and this improvement persisted until the third (P = 0.04, d = 0.34), but not final (P = 0.93, d = 0.01), time point. Global reaction time was not improved 45 min post exercise in the AFTER trial (P = 0.17, d = 0.20). Global reaction time was quicker 45 min post morning exercise compared to the same time point in CON (P = 0.02, d = 0.56) and AFTER (P = 0.01, d = 0.72). CONCLUSION: HIIE may be more effectual in improving cognitive functioning when delivered in the morning.

Apparatus for skidding sensitivity testing of energetic materials.

A remote-operated apparatus for testing the detonation sensitivity of energetic materials is detailed. Using an air ram and rotating disk, the normal force and transverse velocity of the impact plane are controlled independently, enabling the exploration of varying impact conditions over a wide parameter space. A microcontroller local to the apparatus is used to automate apparatus operation and ensure temporal alignment of the impacting ram head with the rotating disk. Calculation of the firing parameters and issuing of operational commands are handled by a remote computer and relayed to the local microcontroller for execution at the hardware level. Impact forces are taken from fast strain measurements obtained from gauges incorporated into the ram head. Infrared imaging of explosive samples provides insight into the peak thermal temperatures experienced at the sample surface during the impact event.

Linear body measurements and productivity of subtropical Holstein-Friesian dairy calves.

OBJECTIVE: The study aimed to describe growth parameters and to quantify the association between linear body measurements as predictors of liveweight (LW) of Holstein-Friesian (HF), and HF crossbred dairy calves in Queensland. A secondary objective was to quantify the effect of disease events on LW change. STUDY DESIGN: Longitudinal study. METHODS: Fortnightly LW, hip height (HH), hip width (HW) and heart girth (HG) measurements were recorded from 16 male and 28 female HF calves from birth until weaning. The association between linear body measurement and the effect of a disease event on LW change were explored using linear mixed-effects modelling with random intercepts and random slopes. RESULTS: HG was the best body measure used individually as a predictor of calf LW (R2 = 82%; P < 0.001), while the combined use of HG, HW and HH was the most accurate predictor of calf LW between birth and weaning (R2 = 90%; P < 0.001). HW, average feed intake and total feed intake were significantly affected by disease events (P < 0.05). On average, total average LW loss associated with a single pneumonia event was estimated at 14.6 kg (95% CI = 10.5 to 18.7 kg; P < 0.05). CONCLUSIONS: Calves of this study performed at a level consistent with the previously published reports. Growth performance was significantly compromised by pneumonia. HW was found to be the least predictive individual measure, and the combined use of HH, HW and HG had the most accurate prediction of calf liveweight from birth to weaning.

Applicability of two bone age assessment methods to children from Saudi Arabia.

AIM: To assess the applicability of the Greulich & Pyle (G&P) and Tanner & Whitehouse (TW3) methods to children from Saudi Arabia using both subjective (manual) rating and BoneXpert software. MATERIALS AND METHODS: Bone age (BA) was assessed using the G&P and TW3 methods, firstly by independent manual rating of two observers, followed by a single observer using the BoneXpert software program. In total, 420 hand trauma radiographs for Saudi Arabians (220 males, 329 left, age range 1-18 years) performed in the period January 2012 to September 2016 were assessed. Paired sample t test was used to compare the difference between mean BA and mean chronological age (CA) and to compare the difference between manual and BoneXpert ratings. Statistical analysis was undertaken using SPSS v.25. RESULTS: A statistically significant difference was found between BA and CA in males when using the G&P (mean difference -0.36±1 years, p<0.01) and TW3 (mean difference -0.22±0.9 years, p=0.03) methods, but not in females for either G&P (mean difference 0.13±1.2 years) or TW3 (mean difference 0.08±1.1 years). In males, BoneXpert results conformed to the manual ratings for TW3, but not for G&P, for which the mean difference between manual and BoneXpert ratings was -0.27±0.5 years (p<0.01). DISCUSSION: The present results indicate that manual and BoneXpert-derived G&P and TW3 bone age assessment can be applied with no modification to Saudi Arabian females; however, only TW3 BoneXpert-derived BA can be applied without caution to Saudi Arabian males.

Dose-response between frequency of interruption of sedentary time and fasting glucose, the dawn phenomenon and night-time glucose in Type 2 diabetes.

AIM: To explore the dose-response between frequency of interruption of sedentary time and basal glucose (fasting glucose, the dawn phenomenon and night-time glucose) in Type 2 diabetes. METHODS: In a randomized three-treatment, two-period balanced incomplete block trial, 12 people with Type 2 diabetes (age, 60.0 ± 3.2 years; BMI, 30.2 ± 1.4 kg/m2 ) completed two of three conditions: sitting for 7 h interrupted every 60 min (Condition 1), 30 min (Condition 2), and 15 min (Condition 3) by 3-min light-intensity walking breaks. The activPAL3 and FreeStyle Libre were used to assess physical activity/sedentary behaviour and continuous glucose profile. Standardized meals were provided, and changes in basal glucose of the nights and early mornings before and after treatment conditions were calculated (mean ± SE). RESULTS: After treatment conditions, fasting glucose and duration of the dawn phenomenon were lower for Condition 3 (-1.0 ± 0.2 mmol/l, P < 0.02; -3.1 ± 1.3 h, P = 0.004) compared with Condition 1 (-0.1 ± 0.2 mmol/l; 1.9 ± 1.2 h). The magnitude of the dawn phenomenon was reduced in Condition 3 (-0.6 ± 0.4 mmol/l, P = 0.041) compared with Condition 2 (0.6 ± 0.3 mmol/l). Night-time glycaemic variability (coefficient of variation) was reduced in Condition 3 (-9.7 ± 3.9%) relative to Condition 2 (6.1 ± 4.8%, P < 0.03) and Condition 1 (2.5 ± 1.8%, P = 0.02). There was no change in night-time mean glucose. CONCLUSIONS: Frequent interruptions of prolonged sitting with 3 min of light-intensity walking breaks every 15 min improves fasting glucose, the dawn phenomenon and night-time glycaemic variability, and this might be a simple therapeutic intervention to improve glucose control. Clinicaltrials.gov Identifier: NCT02738996.

Utility of temporal artery biopsy samples for genome-wide analysis of giant cell arteritis.

Giant Cell Arteritis (GCA) is the most common vasculitis affecting the elderly. Archived formalin-fixed paraffin-embedded (FFPE) temporal artery biopsy (TAB) specimens potentially represent a valuable resource for large-scale genetic analysis of this disease. FFPE TAB samples were obtained from 12 patients with GCA. Extracted TAB DNA was assessed by real time PCR before restoration using the Illumina HD FFPE Restore Kit. Paired FFPE-blood samples were genotyped on the Illumina OmniExpress FFPE microarray. The FFPE samples that passed stringent quality control measures had a mean genotyping success of >97%. When compared with their matching peripheral blood DNA, the mean discordant heterozygote and homozygote single nucleotide polymorphisms calls were 0.0028 and 0.0003, respectively, which is within the accepted tolerance of reproducibility. This work demonstrates that it is possible to successfully obtain high-quality microarray-based genotypes FFPE TAB samples and that this data is similar to that obtained from peripheral blood.

Multiple prenatal ultrasound scans and ocular development: 20-year follow-up of a randomized controlled trial.

OBJECTIVES: Through comprehensive ophthalmic examination of adult offspring we sought to determine the impact of multiple prenatal ultrasound scans on ocular development. METHODS: 2743 pregnant women recruited to the Western Australian Pregnancy (Raine) Cohort study during 1989-1991 were randomized to receive at King Edward Memorial Hospital, Western Australia either multiple prenatal ultrasound scans and Doppler flow studies (intensive group) or a single ultrasound scan at 18 weeks' gestation. Neonatal birth weight of the offspring and other physical measurements were collected prospectively. At age 20 years, participants underwent a comprehensive ophthalmic examination including measurement of ocular biometry and visual acuity. RESULTS: Complete data were available for 1134 adult offspring participants. The mothers of 563 of these had been randomized to receive multiple prenatal ultrasound scans. The mean age of participants at follow-up was 20.0 years. There was no statistically significant difference between the two groups with regard to ocular biometric or visual outcomes, except for slightly higher intraocular pressure identified in individuals exposed to multiple ultrasound scans (P = 0.034). Although infants in the intensive-ultrasound arm were more likely to have birth weights in the lower quartiles, this was not reflected in adult eye development. Axial length, lens thickness, corneal curvature and thickness and optic cup to disc ratio (a risk factor for glaucomatous optic neuropathy) were not significantly influenced by the more frequent ultrasound protocol. CONCLUSIONS: Prior to this study, there was a paucity of safety data for ultrasound with regard to eye development. We found that frequent in-utero exposure to ultrasound, including B-mode imaging and the use of spectral Doppler mode from 18 weeks' gestation, had no significant impact on visual outcomes or ocular biometry.

Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.

PURPOSE: To describe an Australian pedigree of European descent with a variable autosomal dominant phenotype of: pediatric cortical cataract (CC), asymmetric myopia with astigmatism, familial exudative vitreoretinopathy (FEVR), and primary open-angle glaucoma (POAG). METHODS: Probands with CC, FEVR, and POAG were enrolled in three independent genetic eye studies in Tasmania. Genealogy confirmed these individuals were closely related and subsequent examination revealed 11 other family members with some or all of the associated disorders. RESULTS: Twelve individuals had CC thought to be of childhood onset, with one child demonstrating progressive lenticular opacification. One individual had severe retinal detachment while five others had dragged retinal vessels. Seven individuals had POAG. Seven individuals had myopia in at least one eye ≤-3 Diopters. DNA testing excluded mutations in myocilin, trabecular meshwork inducible glucocorticoid response (MYOC) and tetraspanin 12 (TSPAN12). Haplotype analysis excluded frizzled family receptor 4 (FZD4) and low density lipoprotein receptor-related protein 5 (LRP5), but only partly excluded EVR3. Multipoint linkage analysis revealed multiple chromosomal single-nucleotide polymorphisms (SNPs) of interest, but no statistically significant focal localization. CONCLUSIONS: This unusual clustering of ophthalmic diseases suggests a possible single genetic cause for an apparently new cataract syndrome. This family's clinical ocular features may reflect the interplay between retinal disease with lenticular changes and axial length in the development of myopia and glaucoma.

Distribution of conjunctival ultraviolet autofluorescence in a population-based study: the Norfolk Island Eye Study.

OBJECTIVE: The objective of this study was to describe the distribution of conjunctival ultraviolet autofluorescence (UVAF) in an adult population. METHODS: We conducted a cross-sectional, population-based study in the genetic isolate of Norfolk Island, South Pacific Ocean. In all, 641 people, aged 15 to 89 years, were recruited. UVAF and standard (control) photographs were taken of the nasal and temporal interpalpebral regions bilaterally. Differences between the groups for non-normally distributed continuous variables were assessed using the Wilcoxon-Mann-Whitney ranksum test. Trends across categories were assessed using Cuzick's non-parametric test for trend or Kendall's rank correlation τ. RESULTS: Conjunctival UVAF is a non-parametric trait with a positively skewed distribution. Median amount of conjunctival UVAF per person (sum of four measurements; right nasal/temporal and left nasal/temporal) was 28.2 mm(2) (interquartile range 14.5-48.2). There was an inverse, linear relationship between UVAF and advancing age (P<0.001). Males had a higher sum of UVAF compared with females (34.4 mm(2) vs 23.2 mm(2), P<0.0001). There were no statistically significant differences in area of UVAF between right and left eyes or between nasal and temporal regions. CONCLUSION: We have provided the first quantifiable estimates of conjunctival UVAF in an adult population. Further data are required to provide information about the natural history of UVAF and to characterise other potential disease associations with UVAF. UVR protective strategies should be emphasised at an early age to prevent the long-term adverse effects on health associated with excess UVR.

Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.

PURPOSE: (1) To evaluate the spectrum of BEST1 mutations within Australian Best Disease or vitelliform macular dystrophy (VMD) pedigrees, including any novel mutations; (2) to analyse the range of clinical presentations of this cohort; (3) to determine any possible genotype-phenotype correlations and (4) to compare clinical data of patients with phenotypic VMD, both with and without a BEST1 mutation. PATIENTS AND METHODS: Patients with suspected VMD were referred to clinical centres for ophthalmological assessment and genetic screening. When a mutation was identified in a proband, further family members were invited for clinical and genetic screening. RESULTS: We identified 42 patients with one of 13 BEST1 mutations. Seven mutations were novel. There were a further 14 probands in whom a BEST1 mutation was not identified. Median visual acuity in both VMD (mutation positive) and clinical VMD (no BEST1 mutation identified) groups reached driving standards (6/12 or better). CONCLUSION: We did not identify any firm genotype-phenotype correlations in our Australian VMD pedigrees, in which there was a spectrum of BEST1 mutations and marked variation in clinical presentation. Genetic screening remains the gold standard for VMD diagnosis. Patients should be counselled that visual acuity might remain at or above driving standards in at least one eye even in the presence of a BEST1 mutation.

Examination of fatigue development in elite soccer in a hot environment: a multi-experimental approach.

The study examines fatigue in elite soccer played in hot conditions. High-profile soccer players (n=20) were studied during match play at ∼31 °C. Repeated sprint and jump performances were assessed in rested state and after a game and activity profile was examined. Additionally, heart rate (HR), blood lactate, muscle temperature and body mass changes were determined. Repeated sprint and jump performances were reduced (P<0.05) by 2.6% and 8.2%, respectively, after the game. The fatigue index in the repeated sprint test was 6.0±0.7% after the game compared with 1.7±1.0% at rest (P<0.05). High-intensity running was 57±4% lower (P<0.05) during the last 15-min interval of the game compared with the first 15-min period. No differences were observed in mean HR or blood lactates between halves. Muscle temperature was 40.5±0.4 °C after the first half, which was 0.8±0.2 °C higher (P<0.05) than after the second half. Net fluid loss during the game was >2% of the body mass. Correlations were observed between net-fluid loss and repeated sprint test fatigue index after the game (r=0.73, P<0.05) and Yo-Yo intermittent recovery, level 1 test performance and high-intensity running during the final 15 min of the game (r=0.51, P<0.05). The study provides direct evidence of compromised repeated sprint and jump performances induced by soccer match play and pronounced reduction in high-intensity running toward the end of an elite game played in a hot environment. This fatigue could be associated training status and hyperthermia/dehydration.

Mortality in primary open-angle glaucoma: 'two cupped discs and a funeral'.

PURPOSE: The aim of this study was to investigate the causes of mortality in individuals with open-angle glaucoma (OAG). METHODS: All-cause mortality data from the Registry of Births, Deaths and Marriages for the Australian state of Tasmania, for all people who were at least 40 years of age at the time of death, were classified using International Classification of Diseases-10 guidelines. This information was cross-referenced to identify participants in the Glaucoma Inheritance Study in Tasmania (GIST) who had died. Contingency tables were used for crude analysis and then models were constructed, adjusting for age at death as well as gender. RESULTS: Between 1996 and 2005, a total of 33 879 deaths were recorded. Data were unavailable for 4868 (14.4%) people. The mean age at death for the study sample was 78.4+/-11.5 (range 41-109) years. Of those cases known to have OAG by their participation in GIST (n=2409), full mortality data were available for 741 (92.0%). Following adjustment for the age at death and male gender, the odds ratio for death due to ischaemic heart disease in people with OAG compared to the general population not known to have OAG was significant (OR=1.30, 95% CI: 1.08-1.56; P=0.006). Crude analysis revealed that there were significantly fewer people with OAG who died due to metastatic cancer (P<0.001); however, this did not remain significant following adjustment for age and gender. CONCLUSION: The pathoaetiological relationship between OAG and ischaemic heart disease is unclear and requires further investigation. Increased awareness of the association between cardiovascular disease and OAG is warranted.

Gastric bezoars: reassessment of clinical and radiographic findings in 19 patients.

The aim of this study was to reassess the clinical and radiographic findings in a series of patients with gastric bezoars. Radiology files revealed 19 patients with bezoars; 10 patients had CT and 10 had endoscopy before or after the barium studies. 11 patients (58%) had risk factors for gastroparesis and 6 (32%) had had previous gastric surgery, including 3 having had a gastric bypass or vertical banded gastroplasty. 18 patients (95%) had symptoms; in 10 of those patients, symptoms were present for 1 week or less (53%). On barium studies, the bezoars were round or ovoid in 17 patients (89%) and irregular in 2 (11%); mottled in 10 (53%) and homogeneous in 9 (47%); and mobile in 15 (79%) and immobile in 4 (21%). Gastroparesis was observed at fluoroscopy in 8 (62%) out of 13 patients without gastric surgery. Symptoms improved/resolved in 12 (67%) out of 18 patients. Follow-up CT or endoscopy showed resolution of the bezoars in 8 (80%) out of 10 patients; the mean interval to resolution was 12 days. Our experience suggests that gastroparesis is the single most common cause of bezoars, accounting for the majority of cases. Partial gastric resection or bariatric surgery should also be recognized as a cause of bezoar formation. These lesions may be manifested on barium studies by a spectrum of findings, appearing as mottled or homogeneous, mobile or immobile masses, sometimes filling the gastric pouch after bariatric surgery. Affected individuals often have an acute clinical presentation with symptoms for 1 week or less, and some bezoars resolve rapidly on conservative medical treatment.

Advances in telemetric continuous intraocular pressure assessment.

With an ageing population showing an increasing prevalence of glaucoma, there is a pressing demand for continuous intraocular pressure (IOP) measurements which could surpass clinic-based measurements such as routine applanation tonometry. Glaucoma patients have fluctuations in IOP, and it has been proposed that these fluctuations are relevant to glaucoma progression. In addition, interindividual and intraindividual variation in corneal thickness and rigidity can lead to significant and poorly quantitated errors in applanation-based methods of estimating IOP. Microelectrical mechanical systems and complementary metal oxide semiconductor-based technology has enabled the development of smart miniaturised devices by augmenting the computational ability of microelectronics with capabilities of microsensors and microactuators. This review addresses various sensor technologies and both invasive and non-invasive approaches to the measurement of IOP. Advances in wireless communication (telemetry) between the implanted sensors and the external readout device are reviewed. In addition, biocompatibility of implantable sensors is discussed.

Preparation for football competition at moderate to high altitude.

Analysis of approximately 100 years of home-and-away South American World Cup matches illustrate that football competition at moderate/high altitude (>2000 m) favors the home team, although this is more than compensated by the likelihood of sea-level teams winning at home against the same opponents who have descended from altitude. Nevertheless, the home team advantage at altitudes above approximately 2000 m may reflect that traditionally, teams from sea level or low altitude have not spent 1-2 weeks acclimatizing at altitude. Despite large differences between individuals, in the first few days at high altitude (e.g. La Paz, 3600 m) some players experience symptoms of acute mountain sickness (AMS) such as headache and disrupted sleep, and their maximum aerobic power (VO2max) is approximately 25% reduced while their ventilation, heart rate and blood lactate during submaximal exercise are elevated. Simulated altitude for a few weeks before competition at altitude can be used to attain partial ventilatory acclimation and ameliorated symptoms of AMS. The variety of simulated altitude exposures usually created with enriched nitrogen mixtures of air include resting or exercising for a few hours per day or sleeping approximately 8 h/night in hypoxia. Preparation for competition at moderate/high altitude by training at altitude is probably superior to simulated exposure; however, the optimal duration at moderate/high altitude is unclear. Preparing for 1-2 weeks at moderate/high altitude is a reasonable compromise between the benefits associated with overcoming AMS and partial restoration of VO2max vs the likelihood of detraining.

The natural history of OPA1-related autosomal dominant optic atrophy.

BACKGROUND/AIMS: Autosomal dominant optic atrophy (ADOA) is a genetically heterogenous disease. However, a large proportion of this disease is accounted for by mutations in OPA1. The aim of this longitudinal study was to investigate disease progression in Australian ADOA patients with confirmed OPA1 mutations. METHODS: Probands with characteristic clinical findings of ADOA were screened for OPA1 mutations, and relatives of identified mutation carriers were invited to participate. Disease progression was determined by sequential examination or using historical records over a mean of 9.6 (range 1-42) years. RESULTS: OPA1 mutation carriers (n = 158) were identified in 11 ADOA pedigrees. Sixty-nine mutation carriers were available for longitudinal follow-up. Using the right eye as the default, best-corrected visual acuity (BCVAR) remained unchanged (defined as visual acuity at or within one line of original measurement) in 43 patients (62%). BCVAR worsened by 2 lines in 13 patients (19%). BCVAR deteriorated by more than 2 lines in six patients (9%). Ten per cent of patients had an improvement in visual acuity. Mean time to follow-up was 9.6 years with the mean visual acuity being 6/18 for both the initial and subsequent measurements. There was no statistical significance in the rate of BCVAR loss across different OPA1 mutations (p = 0.55). CONCLUSION: OPA1-related ADOA generally progresses slowly and functional visual acuity is usually maintained. Longitudinal disease studies are important to enable appropriate counselling of patients. This study enables a better understanding of the natural history of ADOA.

Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.

Analysis of CYP1B1 in primary congenital glaucoma (PCG) patients from various ethnic populations indicates that allelic heterogeneity is high, and some mutations are population specific. No study has previously reported the rate or spectrum of CYP1B1 mutations in Australian PCG patients. The aim of this study is to determine the frequency of CYP1B1 mutations in our predominately Caucasian, Australian cohort of PCG cases. Thirty-seven probands were recruited from South-Eastern Australia, along with 100 normal control subjects. Genomic DNA was extracted and the coding regions of CYP1B1 analysed by direct sequencing. Sequence analysis identified 10 different CYP1B1 disease-causing variants in eight probands (21.6%). Five subjects were compound heterozygotes, two subjects heterozygous and one homozygous for CYP1B1 mutations. Three missense mutations are novel (D192Y, G329D, and P400S). None of the novel mutations identified were found in normal controls. One normal control subject was heterozygous for the previously reported CYP1B1 R368H mutation. Six previously described probable polymorphisms were also identified. Mutations in CYP1B1 account for approximately one in five PCG cases from Australia. Our data also supported the high degree of allelic heterogeneity seen in similar studies from other ethnic populations, thereby underscoring the fact that other PCG-related genes remain to be identified.

The role of the Met98Lys optineurin variant in inherited optic nerve diseases.

AIMS: To investigate the role of the common OPTN Met98Lys variant as a risk allele in open-angle glaucoma (OAG), autosomal dominant optic atrophy (ADOA) and Leber's hereditary optic neuropathy (LHON). METHODS: The presence of the Met98Lys variant was determined in a total of 498 (128 with normal-tension glaucoma (NTG)) patients with OAG, 29 patients who had myocilin-related OAG, 101 patients from ADOA pedigrees, 157 patients from LHON pedigrees and 218 examined OAG age-matched normal controls. RESULTS: 17 of 218 (7.8%) controls had the Met98Lys variant. 28 (5.6%) patients with OAG were Met98Lys positive. More Met98Lys carriers were found in the NTG group than in the high-tension glaucoma (HTG) group (p = 0.033). However, no significant difference was observed between the NTG and control cohorts (p = 0.609). Two MYOC mutation carriers were found to have the variant. The variant was found in 1 of 10 pedigrees with ADOA and in 8 of 35 pedigrees with LHON. CONCLUSION: Data from this study do not support a strong role for the OPTN Met98Lys variant in glaucoma, ADOA or LHON. However, a weak association was observed of the variant with NTG compared with that with HTG. Meta-analysis of all published data on the variant and glaucoma confirmed that the association, although weak, is highly statistically significant in the cohort with glaucoma versus controls.

The relative contribution of the X chromosome to ocular phenotypes.

The X chromosome is unique, both in terms of functional expression and evolutionary history. Population frequencies for a minority of conditions, such as mental retardation, are directly related to the X chromosome. To explore these ideas, we investigated the general role of the X chromosome in ocular genetics through bioinformatic analysis of the distribution of eye-related genes in the human genome. The proportion of eye-disease loci located on the X chromosome compared to those eye diseases with an autosomal locus was calculated. The resultant figure (3.47) is lower than that calculated for mental retardation (9.74). A comparison between the number of X chromosome genes expressed in the eye compared to the number of autosomal genes expressed in the eye also did not reveal significant differences. Of all genes expressed in the eye, 2.9% are thought to be located on the X chromosome, fewer than found for the larger autosomes (which range from 10.1% to 3.6%). The eye's functional genetic components appear to be dispersed throughout the human genome, possibly to ensure survival in the event of significant cytogenetic derangement.

Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma.

BACKGROUND: The final common pathway for open angle glaucoma (OAG) is retinal ganglion cell apoptosis. Polymorphisms in p53, a major regulator of apoptosis, affect the efficiency of cell death induction. Association studies of p53 haplotypes and OAG have had conflicting results. OBJECTIVE: To examine the association between p53 haplotypes and OAG in a larger white population than in previous reports, and extend the analysis to normal tension glaucoma. METHODS: 345 unrelated people with OAG were recruited (283 subjects with high tension glaucoma and 62 with normal tension glaucoma) and compared with 178 age matched controls. Genomic DNA was analysed for the p53 codon 72 Arg/Pro polymorphism as well as for the presence or absence of a 16 bp intron 3 insertion. RESULTS: In this white cohort no association was found between glaucoma (high or normal tension) and either sequence variant or haplotype. CONCLUSIONS: The p53 codon 72 Arg/Pro polymorphism is not associated with age of onset or severity of glaucoma.