Search results for "RDA"
showing 10 items of 1560 documents
Concordance of Genomic Alterations between Primary and Recurrent Breast Cancer
2014
Abstract There is growing interest in delivering genomically informed cancer therapy. Our aim was to determine the concordance of genomic alterations between primary and recurrent breast cancer. Targeted next-generation sequencing was performed on formalin-fixed paraffin-embedded (FFPE) samples, profiling 3,320 exons of 182 cancer-related genes plus 37 introns from 14 genes often rearranged in cancer. Point mutations, indels, copy-number alterations (CNA), and select rearrangements were assessed in 74 tumors from 43 patients (36 primary and 38 recurrence/metastases). Alterations potentially targetable with established or investigational therapeutics were considered “actionable.” Alterations…
Constraints representing a meta-stable régime facilitate exploration during practice and transfer of learning in a complex multi-articular task
2018
Previous investigations have shown that inducing meta-stability\ud in behavior can be achieved by overlapping affordances through constraint\ud manipulation, allowing cooperative and competitive tendencies to\ud functionally coexist. The purpose of this paper was to test a number of\ud conditions applying these design principles on performance during skills\ud practice and transfer. Of additional interest, was whether the existing\ud skill level interacted with the environmental properties of the\ud experimental tasks (varying indoor climbing routes). Two skill groups\ud practised on three routes per session over four separate sessions. At the\ud end of the final session, climbers undertook…
Lentes de contato corneoesclerais adaptadas em córneas irregulares após cirurgia LASIK
2018
ABSTRACT Purpose: We aimed to describe the outcomes of corneoscleral contact lens fitting with multi-aspherical geometry designs in patients with irregular corneas after laser-assisted in situ keratomileusis (LASIK). Methods: This was a retrospective series of 18 patients (age, 26-38 years) selected from an eye clinic database. Participants were required to have unsatisfactory visual acuity with their current contact lenses or spectacles after LASIK for myopia correction. All patients were fitted with corneoscleral contact lenses designed to correct corneal surface irregularities. A diagnostic trial set was used for fitting, and assessments were performed according to a standardized methodo…
Transient CD15-positive endothelial phenotype in the human placenta correlates with physiological and pathological fetoplacental immaturity
2013
Abstract Objective Placental growth and villous maturation are critical parameters of placental function at the end of pregnancy. A failure in these processes leads to the development of placental dysfunction, as well as fetal and neonatal mortality and morbidity. The aim of the study was to determine the relevant diagnostic markers associated with pathological placental development. Study design Forty tissue samples from normal placentas of different gestational age and 68 pathological term placentas with defective villous maturation (GDM, idiopathic IUFD, preeclamsia, HELLP syndrome) comprised the comparative immunohistochemical study (CD15, CD45 and CD34). Positive immunohistochemical re…
Utility and appropriateness of the fatty liver inhibition of progression (FLIP) algorithm and steatosis, activity, and fibrosis (SAF) score in the ev…
2013
Biopsy is still the gold standard for the diagnosis of nonalcoholic steatohepatitis but the definition may vary among pathologists, a drawback especially in evaluation of biopsies for clinical trials. We previously developed a scoring system (steatosis, activity, fibrosis [SAF]) allowing the use of an algorithm (fatty liver inhibition of progression [FLIP]) for the classification of liver injury in morbid obesity. The aim of this study was to determine whether the use of the SAF score and FLIP algorithm can decrease interobserver variations among pathologists. In a first session, pathologists categorized 40 liver biopsies of patients with nonalcoholic fatty liver disease (NAFLD) according t…
Multicenter Phase I Study of Erdafitinib (JNJ-42756493), Oral Pan-Fibroblast Growth Factor Receptor Inhibitor, in Patients with Advanced or Refractor…
2018
AbstractPurpose:Here, we report results of the first phase I study of erdafitinib, a potent, oral pan-FGFR inhibitor.Patients and Methods:Patients age ≥18 years with advanced solid tumors for which standard antineoplastic therapy was no longer effective were enrolled (NCT01703481). Parts 2 to 4 employed molecular screening for activating FGFR genomic alterations. In patients with such alterations, two selected doses/schedules identified during part 1 dose-escalation [9 mg once daily and 10 mg intermittently (7 days on/7 days off), as previously published (Tabernero JCO 2015;33:3401-8)] were tested.Results:The study included 187 patients. The most common treatment-related adverse events were…
Performance characteristics of the new Abbott Real Time MTB assay for detection of Mycobacterium tuberculosis complex in respiratory specimens
2015
The performance of the Abbott Real Time MTB assay for detection of Mycobacterium tuberculosis complex in respiratory specimens was evaluated using a standard culture as the reference. The overall concordance between both methods was 0.95. The assay displayed an excellent sensitivity (100% for smear-positive/92.3% for smear-negative specimens) and specificity (100%).
Sexism Interacts with Patient–Physician Gender Concordance in Influencing Patient Control Preferences: Findings from a Vignette Experimental Design
2020
Background: Patient preferences regarding their involvement in shared treatments decisions is fundamental in clinical practice. Previous evidences demonstrated a large heterogeneity in these preferences. However, only few studies have analysed the influence of patients’ individual differences, contextual and situational qualities, and their complex interaction in explaining this variability. Methods: We assessed the role of the interaction of patient’s sociodemographic and psychological factors with a physician’s gender. Specifically, we focused on patient gender and attitudes toward male or female physicians. One hundred fifty-three people participated in this randomised controlled study a…
Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Mor…
2001
An inherited deficiency in beta-galactosidase can result in GM1 gangliosidosis, with several phenotypes of generalized or chronic psychomotor deterioration, as well as in Morquio disease type B, a characteristic mucopolysaccharidosis free of neurological symptoms. We performed mutation analyses in 17 juvenile and adult patients from various European regions with a deficiency in beta-galactosidase and skeletal abnormalities. Fifteen of these had the Morquio B phenotype and have remained neurologically healthy until now while the two others exhibited psychomotor retardation of juvenile onset. A two-base substitution (851-852TG--CT; W273L) was present in 14 of the 15 Morquio B cases. Even if o…
Hydroxylation of collagen type I: evidence that both lysyl and prolyl residues are overhydroxylated in osteogenesis imperfecta
1995
The composition of the collagens secreted into the media of fibroblast cultures of 39 patients with osteogenesis imperfecta (OI) was the same in controls and OI cultures. An abnormal migration pattern of collagens upon SDS-PAGE was evident in one third of the cultures investigated. Lysyl and prolyl hydroxylation of HPLC-purified alpha 1(I) chains was elevated in about 60% of cultures. The degree of hydroxylation was highest in the lethal forms. The extent of lysyl and prolyl hydroxylation showed a strong correlation (r = 0.74, P < 0.001). While high levels of hydroxylation are frequently observed in OI patients, a direct correlation between lysyl or prolyl hydroxylation and fracture rate or…