Novel high-throughput oxygen saturation measurements for quantifying the physiological performance of macroalgal early life stages.

Understanding how macroalgal forests will respond to environmental change is critical for predicting future impacts on coastal ecosystems. Although measures of adult macroalgae physiological responses to environmental stress are advancing, measures of early life-stage physiology are rare, in part due to the methodological difficulties associated with their small size. Here we tested a novel, high-throughput method (rate of oxygen consumption and production; V ̇ O 2 $$ \dot{V}{\mathrm{O}}_2 $$ ) via a sensor dish reader microplate system to rapidly measure physiological rates of the early life stages of three habitat-forming macroalgae, the kelp Ecklonia radiata and the fucoids Hormosira banksii and Phyllospora comosa. We measured the rate of O2 consumption (respiration) and O2 production (net primary production) to then calculate gross primary production (GPP) under temperatures representing their natural thermal range. The V ̇ O 2 $$ \dot{V}{\mathrm{O}}_2 $$ microplate system was suitable for rapidly measuring physiological rates over a temperature gradient to establish thermal performance curves for all species. The V ̇ O 2 $$ \dot{V}{\mathrm{O}}_2 $$ microplate system proved efficient for measures of early life stages of macroalgae ranging in size from approximately 50 µm up to 150 mm. This method has the potential for measuring responses of early life stages across a range of environmental factors, species, populations, and developmental stages, vastly increasing the speed, precision, and efficacy of macroalgal physiological measures under future ocean change scenarios.

Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis.

BACKGROUND: Advancements in genetic testing have led to Usher syndrome now being diagnosed at a much earlier age than in the past, enabling the provision of early intervention and support to children and families. Despite these developments, anecdotal reports suggest there are substantial gaps in the services and supports provided to parents of children with Usher syndrome. The current study investigated the support needs of parents of children with Usher syndrome Type 1 when their child was aged 0 to 5 years. METHOD: Purposive sampling was used, and six semi-structured interviews were conducted with Australian parents of children with Usher syndrome, Type 1. Data was analysed using modified reflexive thematic analysis. RESULTS: Four key themes were identified as being central to the support needs of parents of children with Usher syndrome aged 0 to 5 years. (1) Social Needs referred to parents' need for various sources of social support, (2) Informational Needs described the lack of information parents received regarding Usher syndrome from treating professionals, (3) Practical Needs included supports needed to assist parents in managing the day-to-day tasks of caring for a child with a disability, and (4) Emotional Needs represented the emotional support (both formal and informal) that parents needed to be a positive support to their child. CONCLUSIONS: Findings provide rich information for relevant support groups, policy makers, individual healthcare professionals, and professional governing bodies regarding the education of stakeholders and the development and implementation of best-practice treatment guidelines.

Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis.

Leber Hereditary Optic Neuropathy is an inherited optic neuropathy caused by mitochondrial DNA point mutations leading to sudden, painless loss of vision. We report a case of an 8-year-old boy presenting with a radiological phenotype of longitudinally extensive transverse myelitis on a background of severe visual impairment secondary to Leber Hereditary Optic Neuropathy (LHON). He was found to have dual mitochondrial DNA mutations at 14484 (MTND6 gene) and 4160 (MTND1 gene) in a family with a severe form of LHON characterised by not only an unusually high penetrance of optic neuropathy, but also severe extra-ocular neurological complications. The m.14484T>C mutation is a common LHON mutation, but the m.4160T>C mutation is to our knowledge not reported outside this family and appears to drive the neurological manifestations. To our knowledge there have been no previous reports of spinal cord lesions in children with LHON.

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.

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.

BACKGROUND: Mutations in the retinitis pigmentosa GTPase regulator gene (RPGR) are estimated to cause up to 20% of all Caucasian retinitis pigmentosa and up to 75% of cases of X-Linked RP (XLRP). Exon open reading frame 15 (ORF15) is a purine-rich mutation hotspot. Mutations in RPGR ORF15 have also been documented to cause X linked cone-rod dystrophy (XLCORD) and atrophic macular degeneration at an unknown frequency. METHODS: From a hospital clinic population, probands with probable XLRP and XLCORD were screened for RPGR ORF15 mutations and fully phenotyped. RESULTS: Four different RPGR ORF15 mutations were found in four probands. All mutations in the ORF15 exon resulted in premature truncation of the RPGR protein. Three were nonsense mutations: c.507G>T (p.E169stop), c.867G>T (p.G289stop), c.897G>T (p.E299stop) and the fourth a single nucleotide insertion c.1558-1559insA (p.S522fs 525stop). One family exhibited typical XLRP, two XLCORD and one a combination of the phenotypes. CONCLUSION: RPGR ORF15 mutations produce intrafamilial and interfamilial clinical variability with varying degrees of cone degeneration. In an Australian clinic population RPGR ORF15 mutations cause XLCORD in addition to XLRP.

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.

The association between maternal smoking in pregnancy, other early life characteristics and childhood vision: the Twins Eye Study in Tasmania.

PURPOSE: To investigate the association between maternal smoking in pregnancy, early-life environment and childhood vision. METHODS: Twin and triplet children enrolled in the Twins Eye Study in Tasmania underwent a comprehensive ophthalmic examination and their parents/guardians retrospectively answered a questionnaire regarding crawling, walking and other measures. A subset of these twins was also in the Tasmanian Infant Health Survey, which prospectively collected data on antenatal smoking, gestation, birth weight and other factors. RESULTS: The mean age of the 346 individuals (172 multiple birth sets) at the time of examination was 9.25+/-2.4 years. Mean unaided visual acuity was 0.0 (6/6). The mean spherical equivalent was +0.87D, and decreased with increasing child age (p<0.01). A prospective analysis, accounting for birth set clustering and relevant confounders, showed increasing levels of maternal smoking in the third trimester was associated with poor stereoacuity on the Titmus test (worse (>) than 100'', p=0.05) and Lang test (p=0.001) and also with the presence of esotropia (p=0.02). These associations persisted after adjustment for infant postnatal smoke exposure at one month of age. Poor stereoacuity on Titmus stereo test circles was associated with late age of first crawling (RR=1.23 (1.06, 1.42) p=0.005 per month) and late age of first walking (RR 1.18 (1.05, 1.22) p=0.001 per month). CONCLUSIONS: Antenatal smoking was independently associated with poor stereovision and the presence of esotropia. Poor stereoacuity may be associated with delayed age at first crawling or walking.

Associations between exercise-induced pulmonary haemorrhage, right ventricular dimensions and atrioventricular valve regurgitation in conditioned national hunt racehorses.

REASONS FOR PERFORMING STUDY: Exercise-induced pulmonary haemorrhage (EIPH) and tricuspid (TR) and mitral valve regurgitation (MR) are conditions with high prevalence in conditioned Thoroughbreds. Stress failure of pulmonary capillaries, leading to EIPH, is most likely when pulmonary vascular pressure is increased, and mitral regurgitation can result in pulmonary venous hypertension. HYPOTHESIS: There might be an association between MR and EIPH and the right ventricle (RV) of horses known to suffer repeated episodes of EIPH, as their hearts would be subject to higher pulmonary vascular pressures and cardiac output during training and hence increased RV afterload and preload. METHODS: An echocardiographic and auscultation study was conducted in 121 race-fit National Hunt Thoroughbreds. Cardiac auscultation and echocardiography were performed. A guided M-mode image of the RV just below the tricuspid valve was obtained from a right parasternal location and colour flow Doppler (CFD) used to interrogate the tricuspid valve and right atrium. The mitral valve was similarly examined from the left hemithorax. Severity of TR and MR by CFD was graded. Binary data on EIPH, based on whether the horse was perceived to have a clinically significant problem with EIPH, were determined retrospectively for each horse by the horses' primary care veterinary surgeon from medical and other records. Data were analysed using a standard logistic regression analysis approach. RESULTS: EIPH was significantly and positively associated with the systolic and diastolic dimensions of the RV (P = 0.017 and 0.011 respectively) and this association was not sensitive to the effects of age or weight. There were no significant associations between EIPH and TR or MR by auscultation or CFD (TR: auscultation P = 0.1; CFD P = 0.2 and MR: auscultation P = 0.07; CFD P = 0.37). CONCLUSIONS AND CLINICAL RELEVANCE: This study was limited by the method used to classify EIPH, but there was no association between EIPH and horse age, weight, TR or MR in this population of Thoroughbreds. Nevertheless, RV internal dimension was greater in horses obviously affected by EIPH, suggesting that factors resulting in EIPH may directly or indirectly affect RV remodelling in athletic horses.

Posttraumatic stress disorder in children: implications for assessment, prevention, and referral in primary care.

Posttraumatic Stress Disorder (PTSD) has been described in children exposed to a variety of traumatic experiences. It is relatively common and is often accompanied by comorbid conditions. A number of factors influence the development of symptoms including those related to the traumatic event, the individual child, the family, and the sociocultural environment. Primary care physicians should routinely assess trauma exposure and response in the children they treat.

Antibiotic production by Erwinia herbicola Eh1087: its role in inhibition of Erwinia amylovora and partial characterization of antibiotic biosynthesis genes.

Mutants of Erwinia herbicola Eh1087 (Ant-), which did not produce antibiotic activity against Erwinia amylovora, the fire blight pathogen, were selected after TnphoA mutagenesis. In immature pear fruit Ant- mutants grew at the same rate as wild-type strain Eh1087 but did not suppress development of the disease caused by E. amylovora. These results indicated that antibiosis plays an important role in the suppression of disease by strain Eh1087. All of the Ant- mutations obtained were located in a 2.2-kb region on a 200-kb indigenous plasmid. Sequence analysis of the mutated DNA region resulted in identification of six open reading frames, designated ORF1 through ORF6, four of which were essential to antibiotic expression. One gene was identified as a gene which encodes a translocase protein which is probably involved in antibiotic secretion. A sodium dodecyl sulfate-polyacrylamide gel electrophoresis analysis of plasmid proteins produced in Escherichia coli minicells confirmed the presence of proteins whose sizes corresponded to the sizes of the predicted open reading frame products.

An information infrastructure for long-term care.

Emerging trends promise to alter the way long-term care is practiced. These include: changing regulation of the nursing home industry with emphasis on outcome and assessment, a trend in medical informatics away from expert systems and toward on-line decision support and reminder systems, and the application of industrial statistical quality management techniques to the realm of human services. Emerging standards such as the Arden Syntax and Unified Medical Language Systems and technologies such as Rapid Application Development Tools will facilitate the use of modern computing to mold and implement these converging trends.

Hospital administrator perceptions of health information managers as future leaders in health care reform.

The article examines hospital administrators' perceptions of health information professionals moving into leadership positions within health care organizations. Data for this study were collected from a national random sample of hospital administrators (N = 62). Findings from the study suggest that, although health information managers are viewed as integral to the success of the health care organization, health information managers are perceived as lacking appropriate educational training to move into administrative or leadership positions. For the health information professional to move into a leadership position, educational training (at the master's level) must focus on quality management, statistical process control, and performance evaluation.

X-ray microanalysis of unfixed chromatin in dinoflagellate cells prepared by a monolayer cryotechnique.

The fine structural appearance and elemental composition of unfixed chromatin is described for cells of the dinoflagellate Prorocentrum micans prepared by a freeze-drying technique. This involves rapid freezing, cryo-dehydration and resin infiltration of a monolayer of cells dispersed over renin base. The fine structure of the nucleus appears quite different from chemically fixed and dehydrated cells. In stained sections, the chromosomes are seen as pale areas containing diffuse chromatin, and are surrounded by electron-dense nucleoplasm which has a reticulate substructure. X-ray microanalysis reveals the presence of high levels of chromatin-associated Ca and transition metals Fe, Ni, Cu and Zn, in accordance with previous observations on chemically processed cells. Calculation of elemental mass fractions by on-line computer demonstrates an overall ratio of one divalent cation per two phosphorus groups (or per two nucleotides). This ratio is similar to that obtained previously for chemically fixed chromatin, and shows that the precise overall association of metals is not primarily determined by the process of fixation.