Search results for "bioinformatics"

1,4-Dimethyl-3-phenyl-3H-pyrazolo[3,4-c]isoquinolin-5(4H)-one

2008

The title compound, C18H15N3O, is the product of the thermal decomposition of the diazonium salt derived from 2-amino-N-methyl-N-(3-methyl-1-phenyl-1H-pyrazol-5-yl)benzamide. It is characterized by a trans orientation of the methyl groups with respect to the tricyclic ring system. The molecule has a nearly planar phenylpyrazolo[3,4-c]isoquinolin-5-one system, the largest deviation from the mean plane being 0.066 (2) angstrom for the O atom. The dihedral angle between the phenyl substituent and the heterotricycle is 67 (1)degrees. The packing is stabilized by C-H center dot center dot center dot N hydrogen-bond interactions, with the formation of molecular chains along the c axis.

Taspase1: a 'misunderstood' protease with translational cancer relevance

2015

Proteolysis is not only a critical requirement for life, but the executing enzymes also play important roles in numerous pathological conditions, including cancer. Therefore, targeting proteases is clearly relevant for improving cancer patient care. However, to effectively control proteases, a profound knowledge of their mechanistic function as well as their regulation and downstream signalling in health and disease is required. The highly conserved protease Threonine Aspartase1 (Taspase1) is overexpressed in numerous liquid and solid malignancies and was characterized as a 'non-oncogene addiction' protease. Although Taspase1 was shown to cleave various regulatory proteins in humans as well…

A novel mutation (Thr116IIe) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease

2004

We report a novel presenilin 1 (PSN1) mutation (Thr116Ile) in a woman with early onset Alzheimer's disease (AD). This mutation was not found in 100 healthy controls, indicating that this is not a common polymorphism. The patient presented with forgetfulness at age 45, followed over the next 3 years by a worsening of the memory loss and frequent episodes of confusion and spatial disorientation. Neuroimaging studies were consistent with AD. The analysis of the family's pedigree showed that the proband was apparently the only member affected. Because the early death of several close relatives (i.e. the mother and the grandmother) and the demonstration that the father is not a mutation carrier,…

PCV5 Thromboembolisms with Thrombopoietin Receptor Agonists: Systematic Review and Meta-Analysis of Randomized Controlled Trials

2011

A critical evaluation of caplacizumab for the treatment of acquired thrombotic thrombocytopenic purpura

2020

Introduction: Acquired thrombotic thrombocytopenic purpura (aTTP) is a thrombotic microangiopathy caused by inhibitory autoantibodies against ADAMTS13 protein. Until recently, the combination of plasma exchange (PEX) and immunosuppression has been the standard front-line treatment in this disorder. However, aTTP-related mortality, refractoriness, and relapse are still a matter of concern. Areas covered: The better understanding of the pathophysiological mechanisms of aTTP has allowed substantial improvements in the diagnosis and treatment of this disease. Recently, the novel anti-VWF nanobody caplacizumab has been approved for acute episodes of aTTP. Caplacizumab is capable to block the adh…

Triiodothyronine alongside levothyroxine in the management of hypothyroidism?

2021

The current guideline-based management of hypothyroidism recommends monotherapy with levothyroxine (LT4), titrated to maintain the level of thyrotropin within a euthyroid reference range. This has been successful for most people with hypothyroidism, but a substantial minority still report symptoms of hypothyroidism unexplained by a comorbid medical condition. LT4 is essentially a prodrug for triiodothyronine (T3), the thyroid hormone that acts on target tissues in the brain and the periphery. Thyroid hormone replacement with LT4 alone does not restore physiological tissue levels of thyroid hormones, particularly T3. During the last two decades, much interest has focussed on the potential of…

A two miRNA classifier differentiates follicular thyroid carcinomas from follicular thyroid adenomas.

2015

The inherent diagnostic limitations of thyroid fine needle aspiration (FNA), especially in the "indeterminate" category, can be partially overcome by molecular analyses. We aimed at the identification of miRNAs that could be used to improve the discrimination of indeterminate FNAs. miRNA expression profiling was performed for 17 follicular carcinomas (FTCs) and 8 follicular adenomas (FAs). The microarray results underwent cross-comparison using three additional microarray data sets. Candidate miRNAs were validated by qPCR in an independent set of 32 FTCs and 46 FAs. Sixty-eight differentially expressed miRNAs were identified. Thirteen miRNAs could be confirmed by cross comparison. A two-miR…

The Relationship Between Tooth Size Discrepancy and Archform Classification in Orthodontic Patients

2015

Background: To determine the relationship between clinically significant tooth size discrepancies (TSD) and archform classification in orthodontic patients. Material and Methods: Two hundred and forty consecutive sets of pre-treatment orthodontic study models were scanned and landmarked. All models had permanent teeth erupted from first molar to first molar in both arches. Sixty sets of images were classified into two groups of 30 according to the presence (group 1) or absence (group 2) of a clinically significant overall or anterior TSD (>2 SD from Bolton’s original means). Mean upper and lower archforms were created for each group using a fourth degree polynomial curve. Upper and lower ar…

Siliceous spicules enhance fracture-resistance and stiffness of pre-colonial Amazonian ceramics

2015

AbstractPottery was a traditional art and technology form in pre-colonial Amazonian civilizations, widely used for cultural expression objects, utensils and as cooking vessels. Abundance and workability of clay made it an excellent choice. However, inferior mechanical properties constrained their functionality and durability. The inclusion of reinforcement particles is a possible route to improve its resistance to mechanical and thermal damage. The Amazonian civilizations incorporated freshwater tree sponge spicules (cauixí) into the clay presumably to prevent shrinkage and crack propagation during drying, firing and cooking. Here we show that isolated siliceous spicules are almost defect-f…

Annotation of microsporidian genomes using transcriptional signals

2012

EA GenoSol CT3; International audience; High-quality annotation of microsporidian genomes is essential for understanding the biological processes that govern the development of these parasites. Here we present an improved structural annotation method using transcriptional DNA signals. We apply this method to re-annotate four previously annotated genomes, which allow us to detect annotation errors and identify a significant number of unpredicted genes. We then annotate the newly sequenced genome of Anncaliia algerae. A comparative genomic analysis of A. algerae permits the identification of not only microsporidian core genes, but also potentially highly expressed genes encoding membrane-asso…