Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives

Porphyria cutanea tarda (PCT) arises from decreased hepatic activity of uroporphyrinogen decarboxylase (UROD). Both genetic and environmental factors interplay in the precipitation of clinically overt PCT, but these factors may vary between different geographic areas. Decreased activity of UROD in erythrocytes was used to identify patients with UROD mutations among a group of 130 Spanish PCT patients. Nineteen patients (14.6%) were found to harbor a mutation in the UROD gene. Eight mutations were novel: M1I, 5del10, A22V, D79N, F84I, Q116X, T141I and Y182C. Five others were previously described: F46L, V134Q, R142Q, P150L and E218G. The new missense mutations and P150L were expressed in Escherichia coli. D79N and P150L resulted in proteins that were localized to inclusion bodies. The other mutations produced recombinant proteins that were purified and showed reduced activity (range: 2.3–73.2% of wild type). These single amino acid changes were predicted to produce complex structural alterations and/or reduced stability of the enzyme. Screening of relatives of the probands showed that 37.5% of mutation carriers demonstrated increased urinary porphyrins. This study emphasizes the role of UROD mutations as a strong risk factor for PCT even in areas where environmental factors (hepatitis C virus) have been shown to be highly associated with the disease.     

Spirituality, Coping, and HIV Risk and Prevention in a Sample of Severely Mentally Ill Puerto Rican Women

Hispanics have been disproportionately impacted by HIV/AIDS. Although HIV risk is significantly elevated among severely mentally ill persons (SMI), the risk of infection appears to be even greater among those SMI who are Hispanic, reflecting the increased risk of HIV among Hispanics. We report on findings from the first 41 participants in a qualitative study examining the context of HIV risk and risk reduction strategies among severely mentally ill Puerto Rican women residents in northeastern Ohio. Individuals participated in a baseline interview, two follow-up interviews, and up to 100 hours of shadowing. Interviews and shadowing activities were recorded and analyzed using a grounded theory. The majority of individuals reported using identification with a religious faith. A large proportion of the participants reported that their religious or spiritual beliefs were critical to their coping, had influenced them to reduce risk, and/or provided them with needed social support. Several participants also reported having experienced rejection from their faith communities. The emphasis on spirituality among Puerto Rican SMI is consistent with previous research demonstrating the importance of spirituality in the Hispanic culture and reliance on spiritual beliefs as a mean of coping among SMI. Our results support the incorporation of spiritual beliefs into secular HIV prevention efforts. Loue is with the Department of Epidemiology and Biostatistics, Center for Minority Public Health, School of Medicine, Case Western Reserve University, Cleveland, OH, USA; Sajatovic is with the Department of Psychiatry, School of Medicine, Case Western Reserve University, Cleveland, OH, USA.     

Posttraumatic Stress Disorder in Rural Primary Care: Improving Care for Mental Health Following Bioterrorism

CONTEXT: Recent bioterrorism attacks have highlighted the critical need for health care organizations to prepare for future threats. Yet, relatively little attention has been paid to the mental health needs of rural communities in the wake of such events. A critical aspect of bioterrorism is emphasis on generating fear and uncertainty, thereby contributing to increased needs for mental health care, particularly for posttraumatic stress disorder, which has been estimated to occur in 28% of terrorism survivors. PURPOSE: Prior experience with natural disasters suggests that first responders typically focus on immediate medical trauma or injury, leaving rural communities to struggle with the burden of unmet mental health needs both in the immediate aftermath and over the longer term. The purpose of the present article is to draw attention to the greater need to educate rural primary care providers who will be the frontline providers of mental health services following bioterrorism, given the limited availability of tertiary mental health care in rural communities. METHODS: We reviewed the literature related to bioterrorism events and mental health with an emphasis on rural communities. FINDINGS AND CONCLUSIONS: Public health agencies should work with rural primary care providers and mental health professionals to develop educational interventions focused on posttraumatic stress disorder and other mental disorders, as well as algorithms for assessment, referral, and treatment of post-event psychological disorders and somatic complaints to ensure the availability, continuity, and delivery of quality mental health care for rural residents following bioterrorism and other public health emergencies.     

A descriptive review of the methodologies used in household surveys on medicine utilization

Background  

Studies carried out in the community enable researchers to understand access to medicines, affordability, and barriers to use from the consumer's point of view, and may stimulate the development of adequate medicines policies. The aim of the present article was to describe methodological and analytical aspects of quantitative studies on medicine utilization carried out at the household level.     

Survey of the definition and screening of neonatal hypoglycaemia in Australia

Objective : To determine the approach to identifying neonatal hypoglycaemia and the definition of neonatal hypoglycaemia used by neonatal paediatricians in Australian Level 3 neonatal intensive care units (NICU).
Methodology : A questionnaire was sent to the 101 neonatal paediatricians in the 22 Level 3 NICU in Australia asking their method of screening for, and definition of, neonatal hypoglycaemia.
Results : Responses were received from 70 neonatal paediatricians, including all 22 directors. A bedside glucose meter is used in 19 of 22 NICU to screen for hypoglycaemia, whilst one NICU uses a glucose analyzer and another NICU uses a visual colour comparison method. One NICU does not screen, but has blood glucose measured in a satellite laboratory. If the screening method suggests hypoglycaemia, 62 of 63 neonatal paediatricians proceed to blood glucose determination in a laboratory, mostly using plasma samples. Based on the laboratory measurement, the definition of neonatal hypoglycaemia ranged from <1.1 to 3.0 mmol/L.
Conclusions : The majority of neonatal paediatricians in Australian NICU screen for neonatal hypoglycaemia using a bedside glucose meter. There is a wide range in the definition of neonatal hypoglycaemia from <1.1 to 3.0mmol/L.