PubMed Central (PMC3 - NLM DTD)
(2,081,148 recursos)
Archive of life sciences journal literature at the U.S. National Institutes of Health (NIH), developed and managed by NIH's National Center for Biotechnology Information (NCBI) in the National Library of Medicine (NLM).
182.
Statins, bone, and neurofibromatosis type 1 - Korf, Bruce R
Neurofibromatosis type 1 (NF1) is a dominantly inherited multi-system disorder. Major features include pigmentary abnormalities, benign tumors of the nerve sheath (neurofibromas), malignant tumors, learning disabilities, and skeletal dysplasia. The NF1 gene functions as a tumor suppressor, but haploinsuffiency probably accounts for some aspects of the non-tumor phenotype. The protein product, neurofibromin, is a Ras GTPase-activating protein, and various Ras pathway inhibitors are being tested in preclinical models and clinical trials for effectiveness in treating NF1 complications. This month in BMC Medicine, a paper by Kolanczyk et al describes a preclinical mouse model for tibial dysplasia and provides evidence that...
184.
The pathophysiology of malarial anaemia: where have all the red cells gone? - Kai, Oscar K; Roberts, David J
Malarial anaemia is an enormous public health problem in endemic areas and occurs predominantly in children in the first 3 years of life. Anaemia is due to both a great increase in clearance of uninfected cells and a failure of an adequate bone marrow response. Odhiambo, Stoute and colleagues show how the age distribution of malarial anaemia and the haemolysis of red blood cells may be linked by an age-dependent increase in the capacity of red blood cells to inactivate complement components absorbed or deposited directly on to the surface of the red blood cell. In this commentary, we discuss...
185.
Germline polymorphisms as modulators of cancer phenotypes - Tan, Patrick
Identifying the complete repertoire of genes and genetic variants that regulate the pathogenesis and progression of human disease is a central goal of post-genomic biomedical research. In cancer, recent studies have shown that genome-wide association studies can be successfully used to identify germline polymorphisms associated with an individual's susceptibility to malignancy. In parallel to these reports, substantial work has also shown that patterns of somatic alterations in human tumors can be successfully employed to predict disease prognosis and treatment response. A paper by Van Ness et al. published this month in BMC Medicine reports the initial results of a multi-institutional...
188.
The problems of meta-analysis for antibiotic treatment of chronic obstructive pulmonary disease, a heterogeneous disease: a commentary on Puhan et al - Sethi, Sanjay
Exacerbations are a major cause of morbidity and mortality in chronic obstructive pulmonary disease. Exacerbations can be of bacterial, viral or mixed etiology, with bacteria involved in 50% of exacerbations. Consequently, current management of exacerbations frequently involves the use of antibiotics. The paper by Puhan et al published this month in BMC Medicine examines the benefit of antibiotics in placebo-controlled trials in mild to moderate outpatient exacerbations. The authors use a meta-analytic approach and rightly conclude that more trials are needed in this area. However, the heterogeneity of chronic obstructive pulmonary disease patients and exacerbations and the limited end-points in...
192.
25 years of HIV-1 research progress and perspectives - Wainberg, Mark A; Jeang, Kuan-Teh
Twenty-five years after the discovery and isolation of the human immunodeficiency virus by French and American scientists, much progress has been made in basic research, clinical treatment, and public health prevention measures for acquired immunodeficiency syndrome. Here, we summarize, in brief, advances that have been achieved and provide some perspectives on future challenges.
193.
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study - Latourelle, Jeanne C; Sun, Mei; Lew, Mark F; Suchowersky, Oksana; Klein, Christine; Golbe, Lawrence I; Mark, Margery H; Growdon, John H; Wooten, G Frederick; Watts, Ray L; Guttman, Mark; Racette, Brad A; Perlmutter, Joel S; Ahmed, Anwar; Shill, Holly A; Singer, Carlos; Goldwurm, Stefano; Pezzoli, Gianni; Zini, Michela; Saint-Hilaire, Marie H; Hendricks, Audrey E; Williamson, Sally; Nagle, Michael W; Wilk, Jemma B; Massood, Tiffany; Huskey, Karen W; Laramie, Jason M; DeStefano, Anita L; Baker, Kenneth B; Itin, Ilia; Litvan, Irene; Nicholson, Garth; Corbett, Alastair; Nance, Martha; Drasby, Edward; Isaacson, Stuart; Burn, David J; Chinnery, Patrick F; Pramstaller, Peter P; Al-hinti, Jomana; Moller, Anette T; Ostergaard, Karen; Sherman, Scott J; Roxburgh, Richard; Snow, Barry; Slevin, John T; Cambi, Franca; Gusella, James F; Myers, Richard H
194.
LRRK2 in Parkinson's disease – drawing the curtain of penetrance: a commentary - Krüger, Rejko
Parkinson's disease is the most common neurodegenerative movement disorder and affects about 2% of the population over the age of 60 years. In 2004, mutations in the LRRK2 gene were first described and turned out to be the most frequent genetic cause of familial and sporadic Parkinson's disease and may account for up to 40% of patients in distinct populations. Based on these findings, Latourelle and colleagues show that the penetrance of the most common LRRK2 mutation is higher in patients with familial compared with sporadic Parkinson's disease and identified a substantial number of affected relatives of mutation carriers not...
196.
BMC Medicine celebrates its 5th anniversary - Appleford, Joanne M; Cassady-Cain, Robin L; Patel, Jigisha; Norton, Melissa L
In November 2008, BMC Medicine passed the landmark of its first 5 years of publishing. When we launched the journal with the aim of publishing high quality research of general interest and special importance, we had no idea what the future would bring. To mark the occasion of our 5th anniversary, we consider the achievements of the last 5 years and discuss our plans for the future.
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