A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred

Apparent mineralocorticoid excess (AME) is a rare autosomal recessive genetic disorder causing severe hypertension in childhood due to a deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2), which is encoded by HSD11B2. Without treatment, chronic hypertension leads to early development of end-organ damage. Approximately 40 causative mutations in HSD11B2 have been identified in ∼100 AME patients worldwide. We have studied the clinical presentation, biochemical parameters, and molecular genetics in six patients from a consanguineous Omani family with AME. DNA sequence analysis of affected members of this family revealed homozygous c.799A>G mutations within exon 4 of HSD11B2, corresponding to a p.T267A mutation of 11βHSD2. The structural change and predicted consequences owing to the p.T267A mutation have been modeled in silico. We conclude that this novel mutation is responsible for AME in this family

Beyond bone biology: Lessons from team science

Today, research in biomedicine often requires the knowledge and technologies in diverse fields. Therefore, there is an increasing need for collaborative team science that crosses traditional disciplines. Here, we discuss our own lessons from both interdisciplinary and transdisciplinary teams, which ultimately ushered us to expand our research realm beyond bone biology. This article is protected by copyright. All rights reserved

Effects of vessel traffic on relative abundance and behaviour of cetaceans : the case of the bottlenose dolphins in the Archipelago de La Maddalena, north-western Mediterranean sea

Acknowledgements This study was part of the Tursiops Project of the Dolphin Research Centre of Caprera, La Maddalena. Financial and logistical support was provided by the Centro Turistico Studentesco (CTS) and by the National Park of the Archipelago de La Maddalena. We thank the Natural Reserve of Bocche di Bonifacio for the support provided during data collection. The authors thank the numerous volunteers of the Caprera Dolphin Research Centre and especially Marco Ferraro, Mirko Ugo, Angela Pira and Maurizio Piras whose assistance during field observation and skills as a boat driver were invaluable.Peer reviewedPostprin

Monitoring health inequalities: life expectancy and small area deprivation in New Zealand

BACKGROUND: Socioeconomic and ethnic inequalities in health are of great concern, and life expectancy provides a readily understood means of monitoring such inequalities. The objectives of this study are to (1) measure life expectancy by socioeconomic deprivation and ethnicity, and (2) describe trends in the deprivation gradient in life expectancy since the mid-1990s. METHODS: Three years of national mortality data have been combined with mid-point population denominators to produce life tables within nationally determined levels of small area deprivation (NZDep96) for three ethnic group: European, Mäori and Pacific peoples. This process has been repeated for the periods 1995–97, 1996–98, 1997–99 and 1998–2000. RESULTS: There was a strong relationship between increasing small area deprivation and decreasing life expectancy. Through the mid- to late 1990s, males living in the most deprived small areas in New Zealand experienced life expectancies at birth approximately nine years less than their counterparts living in the least deprived areas; for females the corresponding difference was under seven years. Mäori and Pacific life expectancies at birth were lower than those of Europeans at each level of deprivation. Over the study period (1995–2000) the gradient in life expectancy across deprivation deciles remained stable. CONCLUSION: Small area deprivation analyses of life expectancy could be repeated routinely at regular intervals, which would provide a useful approach to monitoring trends in socioeconomic, geographic, ethnic and gender inequalities in mortality

The potential impact of the next influenza pandemic on a national primary care medical workforce

BACKGROUND: Another influenza pandemic is all but inevitable. We estimated its potential impact on the primary care medical workforce in New Zealand, so that planning could mitigate the disruption from the pandemic and similar challenges. METHODS: The model in the "FluAid" software (Centers for Disease Control and Prevention, CDC, Atlanta) was applied to the New Zealand primary care medical workforce (i.e., general practitioners). RESULTS: At its peak (week 4) the pandemic would lead to 1.2% to 2.7% loss of medical work time, using conservative baseline assumptions. Most workdays (88%) would be lost due to illness, followed by hospitalisation (8%), and then premature death (4%). Inputs for a "more severe" scenario included greater health effects and time spent caring for sick relatives. For this scenario, 9% of medical workdays would be lost in the peak week, and 3% over a more compressed six-week period of the first pandemic wave. As with the base case, most (64%) of lost workdays would be due to illness, followed by caring for others (31%), hospitalisation (4%), and then premature death (1%). CONCLUSION: Preparedness planning for future influenza pandemics must consider the impact on this medical workforce and incorporate strategies to minimise this impact, including infection control measures, well-designed protocols, and improved health sector surge capacity

Vegetable and fruit intake and its relevance with serum osteocalcin and urinary deoxypyridinoline in Korean adults

The purpose of this study was to evaluate the daily vegetable and fruit intake status of Korean adults and to examine the relationship of vegetable and fruit intake with bone metabolism. The vegetable and fruit intake of 542 healthy male and female adults was analyzed. Then, by selecting 51 targets from the subjects, the relation of vegetable and fruit intake with serum calcium, osteocalcin and deoxypyridinoline (DPD) excretion in urine was examined. The total vegetable intake per day was 397.7 g and 333.5 g by men and women respectively for the age group of 20-29, 366.9 g and 309.2 g respectively for the age group of 30-49, 378.4 g and 325.9 g respectively for the age group of 50-64. Of vegetable varieties, leafy and stem vegetables displayed the highest intake. The order of major intake items of vegetables and fruits was found to be Chinese cabbage kimchi, onion, radish, cucumber, and welsh onion for the age group of 20-29, watermelon, Chinese cabbage kimchi, peach, potato, and onion for the age group of 30-49 and watermelon, Chinese cabbage kimchi, tomato, potato, and peach for the age group of 50-64. Of 51 targets, β-carotene intake displayed a significantly negative correlation with serum osteocalcin. While caloric intake as well as protein, carbohydrate, calcium, phosphorous, zinc and total food intake displayed a significantly negative correlation with DPD excretion in urine, tuber vegetable intake displayed a significantly positive correlation with DPD excretion in urine. In the future, a study will be necessary to accurately explain the relevance of vegetable and fruit intake with bone mineral density and bone metabolism. Also, efforts will be required to increase vegetable and fruit intake