The impact of land use change on migrant birds in the Sahel

Drought and environmental degradation in the drylands of West Africa are widely cited as a possible cause of population decline in migrant birds that winter or stage in the Sahel. Low rainfall was an important factor in declines of long-distance migrants in the 1960s and 1970s, but longer-term declines are likely to be complex in causation, affected by factors operating on any or all of breeding grounds, migration routes or wintering grounds. Human activities have had profound effects on land use in the Sahel in the last four decades, as farmers, livestock keepers and other resource users have responded to drought and economic and social change. Localised ecological studies of habitat use by migrant birds in the Sahel have been undertaken, but a systematic understanding of the place of land use change in the decline of Afro-Palaearctic migrants is still lacking. This paper uses a systematic review of published scientific literature to assess the evidence base for the links between dryland environmental change in the Sahel and numbers of migrant birds that winter in this region. It analyses the extent to which understanding is based on fieldwork in the Sahel itself and concludes that, despite the scientific consensus about the significance of human land use change on bird numbers, field evidence is greatly lacking. The two land use changes for which most evidence exist are loss of wetland and woodland habitats for which impacts on migrant bird species are largely, but not uniformly, negative. More direct research on the links between bird populations and dryland land use change in the Sahel is urgently needed.This paper grew from the project ‘Reversing the declines of African-Palaearctic migrants: understanding the social and economic factors driving land use change in sub-Saharan West African wintering areas’, funded by the CCI Fund (Cambridge Conservation Initiative) and the Isaac Newton Trust. Project partners were the British Trust for Ornithology, the Royal Society for the Protection of Birds, and the Departments of Geography and Zoology, University of Cambridge.This is the accepted manuscript. The final version is available from Taylor and Francis at http://www.tandfonline.com/doi/abs/10.1080/14888386.2014.931822?journalCode=tbid20#.VRAjki6Qne4

Loss of SOX10 function contributes to the phenotype of human Merlin-null schwannoma cells.

Loss of the Merlin tumour suppressor causes abnormal de-differentiation and proliferation of Schwann cells and formation of schwannoma tumours in patients with neurofibromatosis type 2. Within the mature peripheral nerve the normal development, differentiation and maintenance of myelinating and non-myelinating Schwann cells is regulated by a network of transcription factors that include SOX10, OCT6 (now known as POU3F1), NFATC4 and KROX20 (also known as Egr2). We have examined for the first time how their regulation of Schwann cell development is disrupted in primary human schwannoma cells. We find that induction of both KROX20 and OCT6 is impaired, whereas enforced expression of KROX20 drives both myelin gene expression and cell cycle arrest in Merlin-null cells. Importantly, we show that human schwannoma cells have reduced expression of SOX10 protein and messenger RNA. Analysis of mouse SOX10-null Schwann cells shows they display many of the characteristics of human schwannoma cells, including increased expression of platelet derived growth factor receptor beta (PDGFRB) messenger RNA and protein, enhanced proliferation, increased focal adhesions and schwannoma-like morphology. Correspondingly, reintroduction of SOX10 into human Merlin-null cells restores the ability of these cells to induce KROX20 and myelin protein zero (MPZ), localizes NFATC4 to the nucleus, reduces cell proliferation and suppresses PDGFRB expression. Thus, we propose that loss of the SOX10 protein, which is vital for normal Schwann cell development, is also key to the pathology of Merlin-null schwannoma tumours

Parasites and allergy: observations from Brazil.

Brazil is a middle-income country undergoing the epidemiological transition. Effects of changes in daily life habits, and access to clean water, sanitation and urban services on a growing urban population have contributed to a double burden of both infectious and non-communicable chronic diseases. Studies have indicated that parasite infections may modulate the human immune system and influence the development of allergic conditions such as asthma. However, there is no consensus in the published literature on the effects of parasitic infections on allergy, perhaps as a consequence of factors determining the epidemiology of these infections that vary between populations such as age of first infection, duration and chronicity of infections, parasite burden and species, and host genetic susceptibility. In this review, we discuss the observations from Brazil concerning the relationship between parasite infections and allergy. This article is protected by copyright. All rights reserved

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases

TPK1 mutations are a rare, but potentially treatable, cause of thiamine deficiency. Diagnosis is challenging given the phenotypic overlap that exists with other metabolic and neurological disorders. We report a case of TPK1-related disease presenting with Leigh-like syndrome and review the diagnostic utility of thiamine pyrophosphate (TPP) blood measurement. The proband, a 35-year-old male, presented at four months of age with recurrent episodes of post-infectious encephalopathy. He subsequently developed epilepsy, learning difficulties, sensorineural hearing loss, spasticity, and dysphagia. There was a positive family history for Leigh syndrome in an older brother. Plasma lactate was elevated (3.51 mmol/L) and brain MRI showed bilateral basal ganglia hyperintensities, indicative of Leigh syndrome. Histochemical and spectrophotometric analysis of mitochondrial respiratory chain complexes I, II+III, and IV was normal. Genetic analysis of muscle mitochondrial DNA was negative. Whole exome sequencing of the proband confirmed compound heterozygous variants in TPK1: c. 426G>C (p. Leu142Phe) and c. 258+1G>A (p.?). Blood TPP levels were reduced, providing functional evidence for the deleterious effects of the variants. We highlight the clinical and bioinformatics challenges to diagnosing rare genetic disorders and the continued utility of biochemical analyses, despite major advances in DNA sequencing technology, when investigating novel, potentially disease-causing, genetic variants. Blood TPP measurement represents a fast and cost-effective diagnostic tool in TPK1-related diseases

Defining the key wintering habitats in the Sahel for declining African-Eurasian migrants using expert assessment

SummaryThe Sahel in West Africa is a major wintering area for many western Palearctic migrants. The breeding populations of many of these have declined over the past 50 years. However, there have been few intensive field studies on migrant ecology in the Sahel and these were generally within a very restricted area. Consequently our knowledge of the distribution of species within this extensive area and the habitat associations of these species is limited. Understanding these habitat associations is essential for the effective conservation management of populations. We brought together a group of experts and consulted a wider group by email to assess the main Sahelian habitat types used by 68 African-Eurasian migrant bird species. Those species that showed strongest declines during 1970–1990 were associated with more open habitats than those newly declining during 1990–2000, when declining species were associated with habitats with more shrubs and trees. Populations of species that winter in the Sahel are generally stable or increasing now as rainfall has increased and is now near the long-term average for the Sahel. Those which use the Sahel only as a staging area are, in many cases, in rapid decline at present.We would like to thank Andy Clements, Paul Donald, Lincoln Fishpool and Mike Mortimore for contributing to the workshop and Peter Jones, Ian Newton, Volker Salewski, Tim Wacher, Eddy Wymenga and Leo Zwarts for useful comments by email on draft habitat importance scores. This study was funded by the Newton Trust and the Cambridge Conservation Initiative Collaborative Fund, supported by Arcadia. WJS is funded by Arcadia.This is the accepted manuscript of a paper published in Bird Conservation International, Volume 24, Issue 04, December 2014, pp 477-491, DOI: http://dx.doi.org/10.1017/S0959270913000531, Published online: 24 February 201

NDUFA4 (Renamed COXFA4) Is a Cytochrome-c Oxidase Subunit

Groundbreaking work by Kadenbach and colleagues in the 1980s revealed the presence of 13 subunits in the mammalian mitochondrial cytochrome-c oxidase (COX; Complex IV). This observation stood the test of time until 2012 when it was demonstrated that NDUFA4, a polypeptide previously attributed to mitochondrial Complex I, was a 14th subunit of COX. In his recent opinion article, Kadenbach argued that NDUFA4 is not a subunit of COX. However, based on the findings that NDUFA4 deficiency results in a severe loss of COX activity and that NDUFA4 represents a stoichiometric component of the individual COX complex, we reason that NDUFA4 is a bona fide COX subunit and propose renaming it as COX subunit FA4 (COXFA4)

Use of Cowpea and Pigeon pea as Nutritional Ingredients in Culture Media

Background: Dehydrated commercial culture media are hygroscopic and expensive. Cheap, locally available plant seeds such as cowpea (Vigna unguiculata) and pigeon pea (Cajanus cajan) could be used in the design and formulation of microbial culture media in order to reduce the cost.Objective: To make use of locally cheap seeds as a basic nutrient medium for the isolation of different microorganisms.Materials and methods: Solid culture media from locally available plants were designed to include three types, (i) simple; (ii) enriched with the addition of human blood; (iii) differential with lactose and phenol red as a pH indicator, and formulated to contain cowpea and pigeon pea flours in combination in a concentrations of 2%. The name DANIEL & SHAMSOUN (D & S) was used for the designed media. Twenty bacterial species and Candida albicans were inoculated for the observation of the growth response.Results: On D & S simple medium all the organisms grew typically except, Corynebacterium diphtheriae which did not grow and Streptococcus pyogenes and Neisseria meningitidis which revealed atypical colonies. On D & S human blood agar medium, all the organisms grew typically, but the β- hemolysis of some of the β-haemolytic species was not detected and some species revealed green pigmented colonies and green pigmentation on the medium. On D & S differential medium, all lactose-fermenting species revealed typical, yellow colonies and all non-lactose-fermenting species revealed typical, pink-red colonies, except, Vibrio cholerae, Bacillus cereus and Candida albicans which revealed typical, yellow colonies.Conclusion: The flours of cowpea and pigeon pea are good sources of protein, carbohydrates and minerals, so they can be used in the preparation of different types of culture media for the isolation of different species of bacteria and Candida albicans as shown in this study.Key words: Cowpea, pigeon pea, nutrient medium, DANIEL & SHAMSOUN

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies

Rhabdomyolysis is often due to a combination of environmental trigger(s) and genetic predisposition; however, the underlying genetic cause remains elusive in many cases. Mutations in CAV3 lead to various neuromuscular phenotypes with partial overlap, including limb girdle muscular dystrophy type 1C (LGMD1C), rippling muscle disease, distal myopathy and isolated hyperCKemia. Here we present a series of eight patients from seven families presenting with exercise intolerance and rhabdomyolysis caused by mutations in CAV3 diagnosed by next generation sequencing (NGS) (n=6). Symptoms included myalgia (n=7), exercise intolerance (n=6) and episodes of rhabdomyolysis (n=2). Percussion-induced rapid muscle contractions (PIRCs) were seen in five out of six patients examined. A previously reported heterozygous mutation in CAV3 (p.T78M) and three novel variants (p.V14I, p.F41S, p.F54V) were identified. Caveolin-3 immunolabeling in muscle was normal in 3/4 patients however, immunoblotting showed more than 50% reduction of caveolin-3 in five patients compared with controls. This case series demonstrates that exercise intolerance, myalgia and rhabdomyolysis may be caused by CAV3 mutations and broadens the phenotypic spectrum of caveolinopathies. In our series immunoblotting was a more sensitive method to detect reduced caveolin-3 levels than immunohistochemistry in skeletal muscle. Patients presenting with muscle pain, exercise intolerance and rhabdomyolysis should be routinely tested for PIRCs as this may be an important clinical clue for caveolinopathies, even in the absence of other “typical” features. The use of NGS may expand current knowledge concerning inherited diseases, and unexpected/atypical phenotypes may be attributed to well-known human disease genes

Power to the people: To what extent has public involvement in applied health research achieved this?

Public involvement in applied health research is a pre-requisite for funding from many funding bodies. In particular the National Institute of Health Research (NIHR) in the UK, clearly states that it values lay knowledge and there is an expectation that members of the public will participate as research partners in research. As a result a large public involvement infrastructure has emerged to facilitate this. However, there is concern that despite the flurry of activity in promoting public involvement, lay knowledge is marginalised and has limited impact on research decision-making. This article asks to what extent has power shifted from the scientific research community to the public? It discusses the meaning of power and models of public involvement and examines the development of public involvement in applied health research. It identifies public involvement in a range of decision-making: identifying priority areas for commissioning research; making decisions about which projects are funded; decisions about details of research design. Whilst there is evidence that the public voice is present in the composition of research proposals submitted to NIHR and in the decision-making about which projects are funded and how they are carried out, there is less evidence of a change in the power dynamic manifest in social relations between the scientific research community and the public. As a result the biomedical model remains dominant and largely unchallenged in research decision-making