The significance of opthalmologic evaluation in the early diagnosis of inborn errors of metabolism: the Cretan experience

BACKGROUND: The Inborn Errors of Metabolism (IEM) are far from the rare systemic diseases that mainly affect the neural tissue. There are very few written reports on ocular findings in subjects with IEM, thus it was interesting to study the frequency of ocular findings in the studied population and explore their contribution to the early diagnosis of IEM. METHODS: Our study involved the evaluation of IEM suspected cases, which had been identified in a rural population in Crete, Greece. Over a period of 3 years, 125 patients, who fulfilled the inclusion criteria of this study, were examined. Analytical physical examination, detailed laboratory investigation as well as a thorough ocular examination were made. RESULTS: A diagnosis of IEM was established in 23 of the 125 patients (18.4%). Ten (43.5%) of the diagnosed IEM had ocular findings, while 8 of them (34.8%) had findings which were specific for the diagnosed diseases. One patient diagnosed with glycogenosis type 1b presented a rare finding. Of the 102 non-diagnosed patients, 53 (51.96 %) presented various ophthalmic findings, some of which could be related to a metabolic disease and therefore may be very helpful in the future. CONCLUSIONS: The ocular investigation can be extremely useful for raising the suspicion and the establishment of an early diagnosis of IEM. It could also add new findings related to these diseases. The early management of the ocular symptoms can improve the quality of life to these patients

Modular nanometer-scale structuring of gel fibres by sequential self-organization

Ag(I) and Cu(II) complexes of a series of simple bis( urea) ligands form soft metallogels. X-ray crystallographic results suggests that the gels' structure is based on hydrogen bonding to counter anions and thus suggests a route to tunable gel rheological properties

Assisted reproductive technology nursing positioning Australian research in the global context /

Introduction: Australian healthcare statistics indicate that 39,362 stimulated in-vitro fertilisation (IVF) cycles were initiated in Australia in 2009 and these cycles were co-ordinated by almost 300 ART nurses working across the country at 70 accredited primary, associate and satellite IVF units. There is currently no distinct model or theory that informs ART nursing practice in the Australian context. Additionally, there is limited published research that comprehensively examines the unique nature of the ART nursing practice domain internationally. The purpose of this study was to examine ART nursing practice in Australia from the nurses’ perspective. Outcomes of this research have the potential to translate into the global ART nursing community. Method: Grounded Theory (GT) methodology was used to explore Australian ART Nurses’ understanding regarding their specialised clinical practice. Purposive and later theoretical sampling facilitated recruitment of Registered Nurse (RN) participants who were best positioned to inform this research by exploring their perceptions in relation to their clinical practice and to acquire comprehensive data. Fifteen in-depth, semi-structured interviews were undertaken with RNs who were members of the Fertility Nurses of Australasia (FNA) professional group practicing in metropolitan and regional areas around the country. The data collected contributed to a deep understanding of clinical practice from the nursing perspective. NVivo 8™ was used to manage the significant volume of data and to facilitate analysis based on the Grounded Theory constant comparative approach. Results: The principal themes that emerged from this study were two-fold. Firstly it was identified that context specific elements such as personal and professional attributes, knowledge, and patient care activities impact on practice. In addition, a series of factors, both positive and negative, including elements such as communication, support, patient issues, and teamwork were identified by the participants as influencing how the ART nurse practices. The ART Nurse plays a pivotal role, balancing all aspects of the ART process to facilitate effective and efficient patient care and cycle management to optimise patient care and clinical and psychosocial outcomes. This research highlights the complexity of the role and how ART nurses balance these influences as they endeavour to maintain equilibrium for patients and for the ART practice. Conclusion: The ART patient journey is often likened to a roller coaster ride. Outcomes of this research indicate that ART nurses accompany patients on this journey and they play a pivotal and balancing role as they co-ordinate treatment cycles. This research, firmly grounded in comprehensive data collected directly from ART registered nurse participants, identifies themes of particular importance to this journey from the nursing practice perspective. The identified substantive theory contributes to the emerging global body of knowledge with regard to ART nursing practice. Importantly findings will inform practice development, quality assurance, education and curriculum development for ART nurses and the outcomes of this translational research are considered relevant to the global ART nursing context