Search results for "iNGL"

An Intergenic rs9275596 Polymorphism on Chr. 6p21 Is Associated with Multiple Sclerosis in Latvians

2020

Background and objectives: Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system, leading to demyelination of neurons and potentially debilitating physical and mental symptoms. The disease is more prevalent in women than in men. The major histocompatibility complex (MHC) region has been identified as a major genetic determinant for autoimmune diseases, and its role in some neurological disorders including MS was evaluated. An intergenic single-nucleotide polymorphism (SNP), rs9275596, located between the HLA-DQB1 and HLA-DQA2 genes, is in significant association with various autoimmune diseases according to genome-wide association studies (GWASs). A cumulat…

Relevance of gamma interferon, tumor necrosis factor alpha, and interleukin-10 gene polymorphisms to susceptibility to Mediterranean spotted fever.

2009

Several studies have demonstrated that cellular immunity plays a critical role in the protective immune response against Rickettsia conorii. Immune CD4+ and CD8+ T cells are both involved in the control of rickettsial infection (38). Perivascular infiltrated CD4+ and CD8+ T lymphocytes, macrophages, and natural killer cells produce chemokines and cytokines that activate endothelial rickettsicidal activities. Infected human cells, including endothelial cells, hepatocytes, and macrophages, activated by gamma interferon (IFN-γ), tumor necrosis factor alpha (TNF-α), and interleukin-1β (IL-1β), kill intracellular rickettsiae by one or a combination of three mechanisms, involving nitric oxide syn…

Selective decontamination of the digestive tract in adult-to-adult living related liver transplant patients: a single centre experience

2008

Vertebro-Basilar Junction Aneurysms: A Single Centre Experience and Meta-Analysis of Endovascular Treatments

2014

Vascular lesions of the vertebrobasilar junction (VBJ) are challenging in neurosurgical practice, and their gold-standard therapy is still under debate. We describe the operative strategies currently in use for the management of these complex vascular lesions and discuss their rationale in a literature meta-analysis and single centre blinded retrospective study. The single centre study included a review of initial presentation, angiographic features and clinical outcome (with modified Rankin Scale [mRS] scores) over a long-term follow-up. In our series, small aneurysms were effectively treated by endosaccular coil embolization, whereas a strategy including flow-diverter devices combined wi…

NDST1 missense mutations in autosomal recessive intellectual disability.

2014

NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families with homozygous missense NDST1 mutations. All mutations described to date predict the substitution of conserved amino acids in the sulfotransferase domain, and mutation modeling predicts drastic alterations in the local protein conformation. Comparing the four families, we noticed significant overlap in …

Immediate Implant Placement in Fresh Mandibular Molar Extraction Socket: 8-Year Results. A Case Report

2010

Abstract Recently, successful implant placement in fresh extraction sockets has been reported. In this case report, we present the results of an immediate implant placement in a fresh extraction socket of a mandibular molar with simultaneous bone regeneration using a nonresorbable membrane and no other graft materials. Clinical and radiographic findings acquired 8 years after implant placement demonstrated a stable peri-implant situation and confirmed a satisfactory treatment result.

Mandibular Molar Root Resection Versus Implant Therapy: A Retrospective Nonrandomized Study

2009

AbstractSuccess rates for both periodontal and implant therapy are often dependent on site and tooth type. For periodontally involved mandibular molars, the decision to hemisect or to extract and place an implant is often complicated. The purpose of the present study was to evaluate the outcomes of the aforementioned treatment modalities for mandibular molars in a private practice setting. A retrospective chart review was performed. In one group of patients (n = 32), 56 mandibular first or first and second molars were treated by hemisection (Group H). A second group (n = 28) received 36 implants in the mandible to replace periodontally involved first or first and second molars (Group I). Al…

Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain.

2014

Genome wide association studies (GWAS) has allowed the discovery of some interesting risk variants for schizophrenia (SCZ). However, this high-throughput approach presents some limitations, being the most important the necessity of highly restrictive statistical corrections as well as the loss of statistical power inherent to the use of a Single Nucleotide Polymorphism (SNP) analysis approach. These problems can be partially solved through the use of a polygenic approach. We performed a genotyping study in SCZ using 86 previously associated SNPs identified by GWAS of SCZ, bipolar disorder (BPD) and autistic spectrum disorder (ASD) patients. The sample consisted of 3063 independent cases wit…

IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes

2018

GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that are perturbed by these variants, we generate a large transcriptome data set (nine disease-relevant cell types) and identify 23,650 cis-eQTL. We show that these are determined by ∼9720 regulatory modules, of which ∼3000 operate in multiple tissues and ∼970 on multiple genes. We identify regulatory modules that drive the disease association for 63 of the 200 risk loci, and show that these are enriched in multigenic modules. Based on these analyses, we resequence 45 of the corresponding 100 ca…

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

2011

1. The CARDIoGRAM Consortium. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nature Genetics. 2011;43:333–338. ### Study Hypothesis Recently, genome-wide association studies (GWAS) have identified several common variants that are associated with risk of coronary artery disease (CAD) and myocardial infarction (MI). The authors state that the current loci discovered in CAD and MI GWAS explain only a small fraction of the heritability of this complex disease. The authors hypothesized that a larger study would provide more power to discover common variants with modest effect sizes. Therefore, they formed the Coronary ARtery DIsease Genome-wid…