Search results for "Bioinformatics"

Cavity optomechanics mediated by a quantum two-level system

2015

Coupling electromagnetic waves in a cavity and mechanical vibrations via the radiation pressure of photons is a promising platform for investigations of quantum–mechanical properties of motion. A drawback is that the effect of one photon tends to be tiny, and hence one of the pressing challenges is to substantially increase the interaction strength. A novel scenario is to introduce into the setup a quantum two-level system (qubit), which, besides strengthening the coupling, allows for rich physics via strongly enhanced nonlinearities. Here we present a design of cavity optomechanics in the microwave frequency regime involving a Josephson junction qubit. We demonstrate boosting of the radiat…

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review

2020

Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses), and PHF21A (craniofacial anomalies, and intellectual disability). The rest of the PSS phenotype is still not associated with a specific gene. We report a systematic review of the literature and included two novel cases. Because deletions are highly variable in size, we defined three groups of patients considering the PSS-genes involved. We found 23 full PSS cases (ALX4, EXT2, and PHF21A), 14 cases with EXT2-ALX4, and three with PHF21A only…

Tejido adiposo epicárdico, adiponectina y leptina: Una fuente potencial de riesgo cardiovascular en Enfermedad renal crónica

2020

The importance of cardiometabolic factors in the inception and progression of atherosclerotic cardiovascular disease is increasingly being recognized. Beyond diabetes mellitus and metabolic syndrome, other factors may be responsible in patients with chronic kidney disease (CKD) for the high prevalence of cardiovascular disease, which is estimated to be 5- to 20-fold higher than in the general population. Although undefined uremic toxins are often blamed for part of the increased risk, visceral adipose tissue, and in particular epicardial adipose tissue (EAT), have been the focus of intense research in the past two decades. In fact, several lines of evidence suggest their involvement in athe…

Serum leptin level as a diagnostic and prognostic marker in infectious diseases and sepsis: A comprehensive literature review.

2021

Abstract Background: Infections and sepsis are common causes of morbidity and mortality, with an increasing incidence worldwide. Leptin is involved in the inflammatory process and may modulate the cytokine production, immune cell proliferation and endothelial function. There are conflicting results regarding alterations of leptin levels in infectious diseases and the outcome from sepsis. The aim of the current article is to provide an overview of the medical literature on the correlations between variations of leptin levels and infectious diseases and sepsis. Methods: We performed an extensive literature search in PubMed and Google Scholar databases, using keywords to identify articles rela…

Obesity, type 2 diabetes and risk of digestive cancer.

2010

The frequency of obesity has been increasing worldwide for 20 years. Many epidemiological studies support a correlation between obesity and increased risk of cancer, particularly digestive cancers in both genders, and gynaecological cancer in women. Currently, about 5% of cancers could be directly related to overweight. Carcinogenesis mechanisms induced by obesity involve insulin resistance, adipokine and angiogenic factor secretions, and inflammation. Experimental and clinical evidence suggest that insulin resistance plays a major role in carcinogenesis. Insulin and non-protein banded IGF-1, whose levels are increased in type 2 diabetes, stimulate cellular growth and inhibit apoptosis. Abn…

Spatio-Chromatic Adaptation via Higher-Order Canonical Correlation Analysis of Natural Images

2014

Independent component and canonical correlation analysis are two general-purpose statistical methods with wide applicability. In neuroscience, independent component analysis of chromatic natural images explains the spatio-chromatic structure of primary cortical receptive fields in terms of properties of the visual environment. Canonical correlation analysis explains similarly chromatic adaptation to different illuminations. But, as we show in this paper, neither of the two methods generalizes well to explain both spatio-chromatic processing and adaptation at the same time. We propose a statistical method which combines the desirable properties of independent component and canonical correlat…

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis

2013

To access publisher's full text version of this article click on the hyperlink at the bottom of the page Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation. We compared 3,789 PSC cases of European ancestry to 25,079 population controls across 130,422 SNPs genotyped using the Immunochip. We identified 12 genome-wide significant associations outside the human leukocyte antigen (HLA) complex, 9 of which were new, increasing the number of known PSC risk loci to 16. Despite comorbidity with inflammatory bowel disease (IBD) in 72% of the cases, 6 of the 12 loci sh…

2020 Guidelines of the Polish Society of Laboratory Diagnostics (PSLD) and the Polish Lipid Association (PoLA) on laboratory diagnostics of lipid met…

2020

Adverse drug reactions to antiretroviral medication

2009

Antiretroviral therapy has greatly improved prognosis of HIV infection, with a dramatic reduction of morbidity and mortality worldwide. Nevertheless, the condition is still a common cause of death in many underdeveloped countries, where effective treatment is not always unavailable. More than 20 drugs active against HIV are commercially available, which belong to one of four groups: nucleoside reverse transcriptase inhibitors, non-nucleoside reverse transcriptase inhibitors, protease inhibitors, and fusion/entry inhibitors. In the near future new drugs are expected, including those of a novel group, the integrase inhibitors. To avoid viral resistance, combinations of the drugs must always b…

3α-Hydroxy-N-(3-hydroxypropyl)-5β-cholan-24-amide

2009

The title compound, C27H47NO3, is a (3-hydroxypropyl)amide derivative of naturally occurring enantiopure lithocholic acid (3-hydroxy-5-cholan-24-oic acid). The molecule contains four fused rings: three six-membered rings in chair conformations and one five-membered ring in a half-chair form. The two terminal six-membered rings are cis-fused, while other rings are trans-fused. The structure contains an intramolecular O—H O hydrogen bond and a similar hydrogen-bond framework to the corresponding deoxycholic and chenodeoxycholic acid derivatives. Intermolecular O— H O and N—H O interactions are also present in the crystal. This compound seems to have at least two polymorphic forms from a compa…