Background: The study of COMT gene polymorphisms in migraine could be of particular interest since impaired catecholaminergic neurotransmission, namely chronic dopaminergic and noradrenergic hypofunction, is a peculiar migraine trait. In this study, for the first time, we focused on the role of COMT rs4818 genetic variant, the polymorphism most strongly affecting COMT activity, in migraine. This study was conducted in a cohort of carefully clinical characterized Caucasian migraineurs recruited in a specifically dedicated migraine biobank, providing also a replication study on rs4680 polymorphism.
View Article and Find Full Text PDFIntroduction: The BrainSuite(®) is a highly integrated operating theater designed mainly for brain tumor surgery. The issues concerning its routine use in vascular neurosurgery have not been discussed in literature to date. We report our experience of surgical treatment of cerebral aneurysms in the BrainSuite(®), with a view to evaluating safety, feasibility, advantages, disadvantages, and contraindications.
View Article and Find Full Text PDFPurpose: The CLEOPATRA (Clinical Evaluation of Trastuzumab and Pertuzumab) study demonstrated superior progression-free survival (PFS) and overall survival when pertuzumab was added to trastuzumab and docetaxel. Paclitaxel given once per week is effective and less toxic than docetaxel. We performed a phase II study to evaluate the efficacy and safety of pertuzumab and trastuzumab with paclitaxel given once per week.
View Article and Find Full Text PDFBackground & Aims: In patients with chronic HCV-1 infection, recent evidences indicate that determination of a dinucleotide polymorphism (ss469415590, ΔG/TT) of a new gene, designated IFN λ-4, might be more accurate than the 12979860CC type of the IL28B locus in predicting sustained virological response (SVR) following peg-interferon and ribavirin. In addition, combined genotyping of different SNPs of the IL28B locus was shown to help dissect patients most prone to SVR among those with rs12979860CT. We examined whether single or combined genotyping of two IL28B SNPs, rs12979860 and rs8099917, and ss469415590 variation might improve the prediction of SVR.
View Article and Find Full Text PDFContext: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, encoded by CYP21A2 gene, is an autosomal recessive disorder. The CYP21A2 gene, localized in a genetic unit defined RCCX module, is considered one of the most polymorphic of human genes.
Objectives: We considered new evidences about the presence of a RCCX trimodular haplotype with a CYP21A2-like gene to explain the lack of a genotype-phenotype correlation in individuals of two different families.
The primary aim of this study (TA-CH, Tryptophan Amine in Chronic Headache) was to investigate a possible role of tryptophan (TRP) metabolism in chronic migraine (CM) and chronic tension-type headache (CTTH). It is not known if TRP metabolism plays any role in CM and/or CTTH. Plasma levels of serotonin (5-HT), 5-hydroxyindolacetic acid (5-HIAA), metabolite of 5-HT, and tryptamine (TRY) were tested in 73 patients with CM, 15 patients with CTTH and 37 control subjects.
View Article and Find Full Text PDFThe role of the endocannabinoid system (ECS) in mammalian reproduction is a rather active field of research, due to its potential exploitation to combat human infertility. Available data shows that the aberrant endocannabinoid signaling negatively affects embryo development, implantation and pregnancy. Although many efforts have been devoted to a better understanding of the ECS in these steps of female reproduction, very little is known about its role in regulating ovarian follicle development and production of mature oocytes.
View Article and Find Full Text PDFBackground: Neurosurgery aims to achieve maximal tumor resection while preserving neurological function. Tools such as neuronavigation, high-field intraoperative magnetic resonance imaging (iMRI), and intraoperative neurophysiological monitoring (IOM) have consistently helped to achieve this goal, but integration has often been difficult. Surgery of eloquent areas requires IOM, which in an operating theater equipped with high-field (1.
View Article and Find Full Text PDFThe use of herbal therapies is ancient and increasing worldwide. There is a growing body of evidence supporting the efficacy of various "complementary" and alternative medicine approaches in the management of headache disorders. Promising tools to treat migraine patients are herbal products.
View Article and Find Full Text PDFThis study examined some basic health care approaches toward human needs, with a particular focus on nursing. We aimed to incorporate these approaches into the discussion of the mental health of adolescent offenders who consume alcohol. We discuss specific needs of the delinquent group, critique policies that prioritize coercion of adolescent offenders, and the role that nurses could play in the sphere of juvenile delinquency.
View Article and Find Full Text PDFPurpose: This study evaluated the effectiveness of patient dose reduction tools on a 256-slice computed tomography scanner (Brilliance iCT, Philips).
Materials And Methods: The performance of the Brilliance iCT scanner was described in terms of cumulative dose and dose-normalised contrast-to-noise ratio (CNRD). The efficiency of automatic tube current modulation (Z-Dom and D-Dom), shaping filters (SmartShape and IntelliBeam) and asymmetric collimator (Eclipse) was evaluated using appropriate phantoms.
Background: Ganetespib is a small molecule, nongeldanamycin HSP90 inhibitor with potent inhibitory effects on HSP90-dependent oncoproteins of relevance to breast cancer pathogenesis. We therefore tested ganetespib in an unselected cohort of patients with MBC.
Patients And Methods: Patients were treated with single agent ganetespib at 200 mg/m(2) once weekly for 3 weeks, on a 28-day cycle.
Classical phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are two phenotypes of phenylalanine hydroxylase (PAH) deficiency with different degrees of severity. We have analyzed three families in which classical PKU, MHP and a normal phenotype occurred within each family due to the different combinations of three mutations segregating within the family. Indeed, sequence PAH analysis revealed three different alleles segregating in each family.
View Article and Find Full Text PDFObjective: Single-nucleotide polymorphisms (SNP) in the interleukin 28B (IL-28B) gene region are strongly predictive of the response of infected patients to antiviral therapy for hepatitis C virus (HCV). We sought to determine the prevalence of SNP IL-28B rs12979860 C/C and non-C/C (C/T plus T/T) genotypes in HCV-related cryoglobulinemic vasculitis (CV), as compared with HCV-positive patients without CV. We also searched for their association with peculiar clinical manifestations of CV and potential influence on the complete response (virological, molecular, and immunological) to the therapy.
View Article and Find Full Text PDFCase Rep Otolaryngol
November 2013
The petrous apex is a pyramid-shaped structure, located medial to the inner ear and the intrapetrous segment of the internal carotid artery. Lesions of the petrous apex can be surgically treated through different surgical routes. Because of the important neurovascular structures located inside the temporal bone, anatomical 3D knowledge is paramount.
View Article and Find Full Text PDFObjective: To develop a composite patient safety score that provides patients, health-care providers, and health-care purchasers with a standardized method to evaluate patient safety in general acute care hospitals in the United States.
Methods: The Leapfrog Group sought guidance from a panel of national patient safety experts to develop the composite score. Candidate patient safety performance measures for inclusion in the score were identified from publicly reported national sources.
Background & Aims: The pool of HCV genotype 1 patients likely to be cured by peg-interferon and ribavirin remains to be quantified.
Methods: In 1045 patients treated with peg-interferon and ribavirin, two therapeutic strategies were confronted: the first one evaluated only baseline variables associated with sustained virological response (SVR), and the second one included the rapid virologic response (RVR) in addition to baseline predictors. An 80% SVR rate was the threshold to retain a strategy as clinically relevant.
Introduction: Although investigation for JAK2 V617F mutation is recommended in patients presenting with splanchnic venous thrombosis (SVT), no specific clinical advice is given to SVT patients presenting without myeloproliferative neoplasms (MPN) and JAK2 V617F mutation. In MPN-free SVT patients, to investigate the clinical outcome, the clinical impact of re-evaluation for the JAK2 V617F mutation, and relationships with the occurrence and time to diagnosis of MPN.
Materials And Methods: A cohort of non-cirrhotic SVT patients, enrolled at a single centre and prospectively analyzed.
Background: Mutations in the gene encoding phenylalanine hydroxylase (PAH, EC 1.14.16.
View Article and Find Full Text PDFIn this open trial we evaluated the possible efficacy of Ginkgolide B in the treatment of acute aura in a group of patients suffering from migraine with aura, considering in particular the effect of the treatment on aura duration. Twenty-five patients (16 females, 9 males, mean age 39.7 ± 13.
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