The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience.

Many patients with inborn errors of metabolism, due to early diagnosis and improved management, are living longer with less disease burden. Several are now having families of their own. This poses challenges both for the metabolic control of the mother and potential secondary effects on the fetus, as well as the risk of inheriting the inborn error. Classical homocystinuria (HCU, OMIM 236200) is a rare multisystem condition with intellectual, skeletal, ocular, and thromboembolic complications. Ireland has included HCU in the National Newborn Bloodspot Screening Program since 1971. The European network and registry for homocystinurias and methylation defects (E-HOD) guidelines outline the requirements for management and monitoring of this condition and associated complications. Pregnancy alone has many potential complications. When combined with an underlying condition such as HCU, which is prothrombotic and requires a highly medicalized diet, there are significantly increased risks to both mother and baby. Colleagues previously published an Irish case of maternal HCU with successful pregnancy outcome. We add five pregnancies to two women with classical HCU to the literature. We use these to highlight the importance of careful metabolic control and managing the predictable HCU associated risks during pregnancy and the postpartum period. Our cases demonstrate the potential for healthy pregnancies in HCU and that this is best achieved with a motivated clinical team and good patient engagement. Only small numbers of pregnancies in HCU have been reported and we are still learning best practice, but proactive management is essential, as in any inborn error of metabolism.

Flow cytometry and immune thrombocytopenic purpura.

Although Immune thrombocytopenic purpura is a common disorder that family physicians, internists and hematologists face in their everyday practice, its diagnosis rests only on "exclusion" and its therapy is based on algorithms where "trial and error" is the rule. Flow cytometry, if simplified and standardized, could provide a quicker and better diagnostic accuracy. Studies of the lymphocyte subset using flow cytometry and more elaborate immune studies are paving the way for a better understanding of the disease and in identification of prognostic markers. Such studies may even help stratify the first-line therapy responder and assist in the use of the arsenal of immune suppressive therapy with better precision.

Clinicians' gaze behaviour in simulated paediatric emergencies.

AIM: Differences in the gaze behaviour of experts and novices are described in aviation and surgery. This study sought to describe the gaze behaviour of clinicians from different training backgrounds during a simulated paediatric emergency. METHODS: Clinicians from four clinical areas undertook a simulated emergency. Participants wore SMI (SensoMotoric Instruments) eye tracking glasses. We measured the fixation count and dwell time on predefined areas of interest and the time taken to key clinical interventions. RESULTS: Paediatric intensive care unit (PICU) consultants performed best and focused longer on the chest and airway. Paediatric consultants and trainees spent longer looking at the defibrillator and algorithm (51 180 ms and 50 551 ms, respectively) than the PICU and paediatric emergency medicine consultants. CONCLUSIONS: This study is the first to describe differences in the gaze behaviour between experts and novices in a resuscitation. They mirror those described in aviation and surgery. Further research is needed to evaluate the potential use of eye tracking as an educational tool.

Fifteen-minute consultation: Assessment, surveillance and management of hemihypertrophy.

This article aims to provide a structured and concise guide for the general paediatrician managing a child with hemihypertrophy. Hemihypertrophy is a relatively uncommon condition. The significance is that a proportion of those affected are at risk of developing malignancies in childhood. For these children regular surveillance is required. We have outlined how one might assess and investigate a child presenting with hemihypertrophy. We have also formulated a practicable surveillance strategy which is in line with the current Royal College of Paediatrics and Child Health (RCPCH) guideline 'Wilms' tumour surveillance in at-risk children'.

Visual Acuity, Quality of Life and Visual Function Outcomes after Cataract Surgery in Bali.

PURPOSE: To assess post-cataract surgery intermediate-term (>6 months) data of visual acuity (VA), surgical complications, refractive outcomes, quality of life (QOL) and visual function (VF) from a non-governmental organization program in Indonesia. METHODS: Retrospective cohort study design. Participants were a selection of patients who underwent cataract surgery by the John Fawcett Foundation between 2006 and 2011, with at least 6 months follow-up. Patients underwent comprehensive ophthalmic examinations. QOL and VF questionnaires were administered. RESULTS: From a total of 1557 invited to attend, 547 patients participated; 99.8% of eyes had presenting VA <6/60. At day 1 postoperatively, 52.1% of patients had a good outcome by World Health Organization criteria (unaided VA ≥ 6/18). Six months or later postoperatively, 85% of eyes had best-corrected VA ≥ 6/18 and 5.6% of eyes had best-corrected VA < 3/60. At final follow-up, mean postoperative spherical equivalent refraction was -2.35 diopters (standard deviation 1.75, n = 542). On a scale of 1-100, median converted values for QOL were 25.0 preoperatively and 74.0 postoperatively, a statistically significant improvement (p < 0.001). Of eyes with VA better than 3/60 on postoperative day 1, 5.7% (95% confidence interval 3.6-7.9%) became blind (VA < 3/60) at the 6-month or later time point. CONCLUSION: Cataract surgery in this population markedly improved QOL, despite a trend towards myopic refractive outcomes. These findings raise questions about biometric methodology, intraocular lens power calculations and refractive targets. Postoperative day 1 VA data may be a reasonable proxy of the intermediate-term rate of non-blind eyes.

The capability approach for medical education: AMEE Guide No. 97.

The capability approach, with its origins in economic and human development work, has a focus on the freedom of persons to make choices about how they wish to lead a valued life. There has been increasing recognition within general education that the capability approach offers a theoretical and practical framework to both implement and evaluate educational interventions that are designed to increase social justice, such as widening participation. There is great potential for the capability approach to also offer medical education a creative way for changing and evaluating curricula, with an emphasis on the teacher facilitating students to achieve their potential by recognising their aspirations and challenging the constraining factors to achieve their aspirations.

Potential roles for practice nurses in preventive care for young people - a qualitative study.

BACKGROUND: Increasing numbers of practice nurses and their expanding roles in Australian general practice suggest they can contribute to quality primary healthcare for young people. METHODS: Seventeen health and community professionals and a purposefully selected group of 12 practice nurses were interviewed about the role of the practice nurse in young people's healthcare. A directed content approach to analysis was applied. RESULTS: Participants recognised the psychosocial health burdens young people experience and the barriers they perceive in accessing healthcare. With good communication skills and appropriate training, practice nurses were perceived to be able to have an important role in the preventive care of young people. DISCUSSION: Practice nurses can contribute to breaking down barriers to healthcare for young people. This study is being reported on at an opportune time, considering the implications for young people of the 'Practice Nurse Incentive Program'.

Paternally induced transgenerational environmental reprogramming of metabolic gene expression in mammals.

Epigenetic information can be inherited through the mammalian germline and represents a plausible transgenerational carrier of environmental information. To test whether transgenerational inheritance of environmental information occurs in mammals, we carried out an expression profiling screen for genes in mice that responded to paternal diet. Offspring of males fed a low-protein diet exhibited elevated hepatic expression of many genes involved in lipid and cholesterol biosynthesis and decreased levels of cholesterol esters, relative to the offspring of males fed a control diet. Epigenomic profiling of offspring livers revealed numerous modest (∼20%) changes in cytosine methylation depending on paternal diet, including reproducible changes in methylation over a likely enhancer for the key lipid regulator Ppara. These results, in conjunction with recent human epidemiological data, indicate that parental diet can affect cholesterol and lipid metabolism in offspring and define a model system to study environmental reprogramming of the heritable epigenome.

First admissions to inpatient care in Ireland for schizophrenia 1971-2004: trends in gender and age.

First admissions for schizophrenia to inpatient psychiatric services in Ireland are declining. The reason for this decline has been debated and it has been proposed that it could be attributable to either a decline in incidence or to policy changes or to both. OBJECTIVES: This study examines the trends in first admission numbers for schizophrenia in Ireland and the influence of gender and marital status on age at first admission over the time period 1971-2004. METHOD: Data were derived from the National Psychiatric Inpatient Recording System (NPIRS) for the years 1971-2004 inclusive. All first admissions with a diagnosis of schizophrenia during these years were included in the analysis. RESULTS: The results showed a significant decline in the number of first admissions with the number of first admissions for males exceeding those for females. The average age of first admission was higher for females than males (p < 0.001). The average age of first admission showed a decline for males (p < 0.001), but not for females. Marital status was a stronger predictor of age of admission than gender (p < 0.001). Never married persons had a lower age of first admission than those married and the delaying effect of marriage on age at first admission was evident in males and females (p < 0.001). CONCLUSIONS: An examination of first admission hospital data confirm male disadvantage in schizophrenia. The study highlighted a number of areas for future research which include examining gender differences in more refined diagnostic sub groups of schizophrenia and the monitoring of first contacts with community-based mental health services.