Báo cáo y học: ": Unlocking Mendelian disease using exome sequencing" pps

... autoregulatory factor 1 (DEAF1); YY1 transcription factor (YY1); dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1); member RAS oncogene family (RAB39B); synaptic Ras GTPase activating protein 1 (SYNGAP1). Mutational ... C, et al.: Unlocking Mendelian disease using exome sequencing. Genome Biology 2011, 12:228. genome sequencing is applied to genetically heterogeneous diseases that c...

Ngày tải lên: 09/08/2014, 23:20

... Minimally invasive parathyroidectomy is the procedure of choice for primary hyperpara- thyroidism due to parathyroid adenoma. Localization of the offending adenoma in minimally invasive parathyroidectomy ... operating time, incision size and early discharge. Key words: Minimally invasive parathyroidectomy, surgical sonography Introduction Primary hyperparathyroidism (pHPT) is a common...

Ngày tải lên: 25/10/2012, 11:04

... phos- phorylated by ATP and P i . While its phosphorylation by ATP seems very similar to that of t he uncleaved monomer (Fig. 4A), the cleaved fragment is more intensely phosphor- ylated by P i (Fig. ... catal ytic cycle of a P-type ATPase c an be characterized by determining the decay rate of t he phos- phorylated intermediate. The aspartyl-phosphate com- pound can decompose in two ways: in...

Ngày tải lên: 17/03/2014, 17:20

... non- proteolytic actions. Am J Physiol Lung Cell Mol Physiol 2002; 282:L197–206. 69. Venkayya R, Lam M, Willkom M, et al. The Th2 lymphocyte products IL-4 and IL-13 rapidly induce airway hyperresponsive- ness ... dysfunctional airway elements, suggesting that the targeted delivery of their mediators is likely to be central to the disordered airway physiology. Infiltration of the bronchial epi...

Ngày tải lên: 08/08/2014, 21:20

... (Abbott, Chicago, Illinois). Laboratory testing was done using autoanalyzers, enzymatic methods (for lipids), and microparticle enzyme immunoassay on the Axsym system (for insulin; Abbott Laboratories, ... manner as they do in the meta- bolic syndrome [6,7]. Also, C-reactive protein (CRP) may directly contribute to atherosclerosis [10]. Disease- modify- ing antirheumatic drugs (DMARDs) may...

Ngày tải lên: 09/08/2014, 06:22

... remission /disease persistency. Remission may also point to a disease state with (very) low disease activity during treatment with DMARDS; this state of minimal disease activity is generally measured using ... period without the use of disease modifying antirheumatic drugs. In the disease state with low disease activity’ definition of remission, treatment with disease modifyin...

Ngày tải lên: 09/08/2014, 08:22

... 10 days, and T lymphocytes from draining lymph nodes and spleens were isolated. Finally, a KLH-specific recall response was performed as described later. Mixed lymphocyte reaction At day 4 of ... ethanol, respectively. The sections were stained with H & E and were mounted on glass slides. Flow cytometry Phenotypic analysis of cells was performed using flow cytom- etry on a FACScan (Bect...

Ngày tải lên: 09/08/2014, 08:22

... R, Rodriguez-Valverde V, Lopez-Hoyos M: Homocysteine levels in polymyalgia rheumatica and giant cell arteritis: influ- ence of corticosteroid therapy. Rheumatology 2003, 42:1055- 1061. 6. Maradit ... explained by steroid use, although lower doses and a smaller sample size may have led to the observed lack of association [1]. This lower steroid dose may explain why, in a previous study from th...

Ngày tải lên: 09/08/2014, 14:20

... der, Ankylosing Spondylitis Study for the Evaluation of Recombinant Infliximab Therapy Study Group: Efficacy and safety of infliximab in patients with ankylosing spondylitis over a two-year period. Arthritis ... as by the Short Form 36 (SF-36) Health Survey Physical Component Summary (PCS) and Physical Function subscale scores. HRQOL was assessed using the AS Quality of Life (ASQOL) questio...

Ngày tải lên: 09/08/2014, 14:22

... they may impact other markers such as viral load. Finally, readily measurable markers of disease such as total lymphocyte count, haemoglobin, body mass index and delayed type hypersensitivity ... Immune Deficiency Syndromes: JAIDS 2004, 35(4):383-392. 136. Jones-Lopez EC, Okwera A, Mayanja-Kizza H, Ellner JJ, Mugerwa RD, Whalen CC: Delayed-type hypersensitivity skin test reactivity and surv...

Ngày tải lên: 10/08/2014, 05:20