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The top 5 most promising drugs (February 2014) Research

17:46 EDT 14th August 2018 | BioPortfolio

Hyperpolarized He MRI Ventilatory Apparent Diffusion Coefficient of Alpha-1 Antitrypsin Deficiency.

Investigation of the frequency of iron insufficiency among infants in a population in which routine iron supplementation is implemented.

Çullas-İlarslan NE, Günay F, İleri DT, Elhan AH, Ertem M, Arsan S. Investigation of the frequency of iron insufficiency among infants in a population in which routine iron supplementation is implemented. Turk J Pediatr 2018; 60: 22-31. Iron deficiency anemia (IDA) represents the most common cause of anemia worldwide. Because of potential irreversible neurodevelopmental impairment, its preventi...

Angular cheilitis induced by iron deficiency anemia.

Revision Surgery for Failed Anterior Cruciate Ligament Reconstruction with Extension Deficiency.

Some patients with recurrent symptomatic instability after primary anterior cruciate ligament (ACL) reconstruction have an extension deficiency (ED). This study 1) compared preoperative clinical conditions between the ED and non-ED groups undergoing revision ACL reconstruction, 2) documented clinical and arthroscopic findings in ACL-reconstructed patients with re-instability and ED, and 3) determi...

Association between vitamin D deficiency and lipid and non-lipid markers of cardiovascular diseases in the middle east region.

Previous studies have associated vitamin D deficiency with cardiovascular disease (CVD) markers. The underlying mechanism remains elusive. Lipid and non-lipid markers of CVD and their relationship to vitamin D deficiency have not been assessed simultaneously.

NAD(P)HX repair deficiency causes central metabolic perturbations in yeast and human cells.

NADHX and NADPHX are hydrated and redox inactive forms of the NADH and NADPH cofactors, known to inhibit several dehydrogenases in vitro. A metabolite repair system that is conserved in all domains of life and that comprises the two enzymes NAD(P)HX dehydratase and NAD(P)HX epimerase, allows reconversion of both the S- and R-epimers of NADHX and NADPHX to the normal cofactors. An inherited deficie...

Analysis of SLC25A13 gene mutations and prenatal diagnosis for 20 families affected with citrin deficiency.

To detect mutations of SLC25A13 gene in 20 families affected with citrin deficiency and provide prenatal diagnosis for them.

Identification of compound heterozygous mutations p.Gly400Val and p.Arg532Ter of the F11 gene in a Chinese patient with hereditary factor XI deficiency.

To investigate the phenotype and genotype defect characteristics of a Chinese patient with hereditary factor XI deficiency.

Genotypic and phenotypic analysis of a case with inherited coagulation factor X deficiency.

To explore the correlation between F10 gene mutation and its phenotype in a Chinese pedigree affected with FX deficiency.

The latent structure of spatial skill: A test of the 2 × 2 typology.

Multiple frameworks for categorizing spatial abilities exist but it has been difficult to verify them using exploratory factor analysis. The present study tested one of these frameworks-a 2 × 2 classification scheme that crossed the dimensions of static/dynamic and intrinsic/extrinsic (Uttal et al., 2013)-using confirmatory factor analysis with data on spatial performance from kindergarten (N...

Alpha-1 Antitrypsin Deficiency as a Candidate for Gene Editing.

Ectopic expression of factor VIII in MSCs and hepatocytes derived from rDNA targeted hESCs.

Hemophilia A is an X-linked recessive bleeding disorder caused by FVIII gene deficiency, which may result in spontaneous joint hemorrhages or life-threatening bleeding. Currently, cell-based gene therapy via ex vivo transduction of transplantable cells with integrating gene-expressing vectors offers an attractive treatment for HA. In present study, we targeted an expression cassette of B-domain-de...

Prevalence of vitamin D deficiency in infertile women with polycystic ovarian syndrome and its association with metabolic syndrome - A prospective observational study.

The main purpose of this study was to determine the prevalence of vitamin D deficiency in infertile women with polycystic ovarian syndrome (PCOS) and to explore the association of hypovitaminosis D with metabolic syndrome in women with PCOS.

Potential Usefulness of Losartan as an Antifibrotic Agent and Adjunct to Platelet-Rich Plasma Therapy to Improve Muscle Healing and Cartilage Repair and Prevent Adhesion Formation.

Postoperative tissue fibrosis represents a major complication in orthopedics. Transforming growth factor beta 1 is a key molecule in the development of postoperative fibrosis. High concentrations of transforming growth factor beta 1 have also been implicated in various diseases. Agents that counteract the actions of transforming growth factor beta 1 have been investigated as potential antifibrotic...

Vitamin D Receptor polymorphisms and risk of enveloped virus infection: A meta-analysis.

Vitamin-D plays a role regulating the immune response against to viral infection. In this sense, vitamin-D deficiency may confer increased susceptibility to enveloped virus infection such as HIV, Hepatitis, Dengue and Respiratory Syncytial virus infection, among others. Vitamin D activity is mediated by its receptor (VDR), which acts as a transcription factor modulating the expression of genes tri...

Quantitative proteomics of psychotrophic diazotroph in response to nitrogen deficiency and cold stress.

Effective protocols and novel biomarkers are the need of this hour to screen potential cold adapted diazotrophs for sustainable mountain agricultural plans. LC-MS/MS based gel less quantitative proteomics was employed to investigate the metabolic response of Himalayan cold adapted diazotroph Pseudomonas palleroniana N26 (JN055435) for nitrogen deficiency and cold stress. More than 5000 proteins we...

The Fas Signaling Pathway Is a Common Genetic Risk Factor for Severe Cutaneous Drug Adverse Reactions Across Diverse Drugs.

Human leukocyte antigen (HLA) has been recognized as the most important genetic risk factor for severe cutaneous adverse drug reactions (SCARs) caused by certain drugs. However, cumulated observations suggest the presence of genetic risk factors for SCARs other than drug-specific HLA. We aimed to identify a common genetic risk factor of SCARs across multiple drugs.

Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case.

Ribose-5-phosphate isomerase deficiency, a disorder of the pentose phosphate shunt, was described in 1999. There are 2 previously reported cases of ribose-5-phosphate isomerase deficiency. Here, we describe the clinical course, diagnostic odyssey, and molecular findings in the third case of ribose-5-phosphate isomerase deficiency to further delineate the syndrome. Whole-exome sequencing demonstrat...

Essential Fatty Acid Deficiency with SMOFlipid Reduction in an Infant with Intestinal Failure-Associated Liver Disease.

Multicomponent lipid emulsions, such as SMOFlipid, contain intermediate amounts of essential fatty acids (EFAs) compared with traditional soybean-oil based lipid emulsions and 100% fish-oil lipid emulsions. We describe the development of moderate EFA deficiency (EFAD) and slow weight gain in an infant with intestinal failure-associated liver disease managed with SMOFlipid reduction (1 g/kg/d). Onc...

LRRK2 Deficiency Impairs trans-Golgi to Lysosome Trafficking and Endocytic Cargo Degradation in Human Renal Proximal Tubule Epithelial Cells.

Defects in vesicular trafficking underlie a wide variety of human diseases. Genetic disruption of leucine-rich repeat kinase 2 (LRRK2) in rodents results in epithelial vesicular trafficking errors that can also be induced by treatment of animals with LRRK2 kinase inhibitors. Here we demonstrate that defects in human renal cells lacking LRRK2 phenocopy those seen in the kidneys of Lrrk2 knockout mi...

Deficiency of PKD2L1 (TRPP3) Exacerbates Pathological Cardiac Hypertrophy by Augmenting NCX1-Mediated Mitochondrial Calcium Overload.

High salt intake is one independent risk factor for cardiac hypertrophy. Polycystic kidney disease 2-like 1 (PKD2L1, also called TRPP3) acts as a sour sensor in taste cells, and its possible role in the cardiovascular system is unknown. Here, we report that knockout of PKD2L1 exacerbated high-salt diet (HSD)-induced cardiac hypertrophy and fibrosis, accompanied by cardiac dysfunction and reduced c...

The Prognostic Role of the Non-Canonical Nuclear Factor-Kappa B Pathway in Renal Cell Carcinoma Patients.

In the United Kingdom, 8,000 cases of renal cancer are diagnosed each year, with a 5-year survival rate of 50%. Treatment options are limited; a potential therapeutic target is the non-canonical nuclear factor-kappa B (NF-κB) pathway. This pathway plays a role in multiple oncogenic processes in solid tumors. The aim of this study was to investigate the non-canonical nuclear factor pathway in rena...

Effective g Factor of Subgap States in Hybrid Nanowires.

We use the effective g factor of Andreev subgap states in an axial magnetic field to investigate how the superconducting density of states is distributed between the semiconductor core and the superconducting shell in hybrid nanowires. We find a steplike reduction of the Andreev g factor and an improved hard gap with reduced carrier density in the nanowire, controlled by gate voltage. These observ...

Adding cholesterol to diets of animals induces copper deficiency and promotes oxidative damage.

Influenza Vaccination Can Broadly Activate the HIV Reservoir During Antiretroviral Therapy.

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