The cradle of the deltaF508 mutation

Cystic fibrosis (CF) is the most common autosomal recessive disorder caused due to mutation/s in the CFTR gene. The most common mutation in CFTR worldwide is deltaF508 and cystic fibrosis genetic analysis consortium revealed that this mutation is responsible for approximately 66% of all CF chromosomes in the world. Studies looking at the DNA polymorphic haplotypes created by CF linked markers suggest that deltaF508 has a single origin as this mutation has been found associated exclusively with one marker haplotype. Despite a high prevalence of this mutation in CF patients in northern parts of Europe, findings suggest that this mutation was not spread by Europeans but by a group that is speculated to have originated in the Middle East or a more eastern region in Asia (most likely subcontinent). Over here we have given a brief introduction to cystic fibrosis and classification of CFTR mutations and have further elaborated on the crucial issue about the spread of the deltaF508 mutation. We have reviewed findings that give clues about the origin of this mutation from the Baluch ethnicity residing in Pakistan

Validation of a Novel Collection Device for Non-Invasive Urine Sampling from Free-Ranging Animals.

Recent advances in non-invasively collected samples have opened up new and exciting opportunities for wildlife research. Different types of samples, however, involve different limitations and certain physiological markers (e.g., C-peptide, oxytocin) can only be reliably measured from urine. Common collection methods for urine to date work best for arboreal animals and large volumes of urine. Sufficient recovery of urine is thus still difficult for wildlife biologists, particularly for terrestrial and small bodied animals. We tested three collection devices (two commercially available saliva swabs, Salivette synthetic and cotton, and cotton First aid swabs) against a control to permit the collection of small volumes of urine from the ground. We collected urine samples from captive and wild macaques, and humans, measured volume recovery, and analyzed concentrates of selected physiological markers (creatinine, C-peptide, and neopterin). The Salivette synthetic device was superior to the two alternative devices. Concentrations of creatinine, absolute C-peptide, C-peptide per creatinine, absolute neopterin, and neopterin per creatinine measured in samples collected with this device did not differ significantly from the control and were also strongly correlated to it. Fluid recovery was also best for this device. The least suitable device is the First aid collection device; we found that while absolute C-peptide and C-peptide per creatinine concentrations did not differ significantly from the control, creatinine concentrations were significantly lower than the control. In addition, these concentrations were either not or weakly correlated to the control. The Salivette cotton device provided intermediate results, although these concentrations were strongly correlated to the control. Salivette synthetic swabs seem to be useful devices for the collection of small amounts of urine from the ground destined for the assessment of physiological parameters. They thus provide new opportunities for field studies to incorporate physiological markers, particularly on smaller bodied and terrestrial animals and where urine collection is difficult

Distribution of surface sediments off Indus delta on the continental shelf of Pakistan

Surface sediments from the continental shelf area off Indus delta were analysed for their textural characteristics and carbonate content. The sediments are largely silt, silty clay and clayey silty sand. Sandy fraction is dominant in the outer region with relatively high carbonate content. The study shows that distribution of carbonate in sediments off Indus delta continental shelf is controlled by the dilution of terrigenous material and its distance from source area

How do general practitioners experience providing care to refugees with mental health problems? A qualitative study from Denmark

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited

Absence from work due to occupational and non-occupational accidents

AIMS: The aim of the present study was to investigate absence from work in Denmark due to occupational and non-occupational accidents.BACKGROUND: Since the beginning of the last decade, political focus has been placed on the population's working capacity and the scope of absence due to illness. Absence from work is estimated at between 3% and 6% of working hours in the EU and costs are estimated at approximately 2.5% of GNP.METHODS: Victims of accidents treated at two emergency departments were interviewed regarding absence for the injured, the family and others. All answers were linked to the hospital information on the injury, so that it was possible to examine the relation between absence and injury type, and cause of the accident.RESULTS: In total, 1,479 injured persons were interviewed. 36% of these reported absence from work by themselves or others. In mean, an injury caused 3.21 days of absence. Based on this the total absence due to injuries in Denmark was estimated to 1,822,000 workdays, corresponding to approximately 6% of the total absence from work due to all types of illness. Non-occupational injuries resulted in more absence than did occupational injuries.CONCLUSIONS: Absence due to accidents contributed to a considerable part of the total absence from work, and non-occupational accidents caused more absence than did occupational accidents.</p