Search results for "OTU"
showing 10 items of 2539 documents
Unilateral laryngeal and hypoglossal paralysis (Tapia's syndrome) in a patient with an inflammatory pseudotumor of the neck
2012
Tapia’s syndrome (TS) is a rare condition thought tobe causedby njury to the extracranial course of both recurrent laryngeal branch f the vagal nerve and hypoglossal nerve. First described in 1904, t occurs with unilateral paralysis of the vocal cord and tongue, ith normal function of the soft palate. Commonly reported causes re direct trauma, neurofibromatosis of X and XII nerves, carotid rtery dissection involving the ascending pharyngeal artery, and isplacement of endotracheal tube during general anesthesia [1].
Integration of a radiation biomarker into modeling of thyroid carcinogenesis and post-Chernobyl risk assessment
2016
Strong evidence for the statistical association between radiation exposure and disease has been produced for thyroid cancer by epidemiological studies after the Chernobyl accident. However, limitations of the epidemiological approach in order to explore health risks especially at low doses of radiation appear obvious. Statistical fluctuations due to small case numbers dominate the uncertainty of risk estimates. Molecular radiation markers have been searched extensively to separate radiation-induced cancer cases from sporadic cases. The overexpression of the CLIP2 gene is the most promising of these markers. It was found in the majority of papillary thyroid cancers (PTCs) from young patients…
The Finnish Clinical Outcome in Routine Evaluation Outcome Measure psychometric exploration in clinical and non-clinical samples
2017
The Clinical Outcomes in Routine Evaluation Outcome Measure (CORE-OM) is a 34-item self-report measure designed to monitor changes in psychiatric patients. It has been translated into 25 languages, including Finnish. This is the first psychometric exploration of Finnish CORE-OM data. The aim of the study is to examine acceptability, internal consistency and convergent validity of the Finnish CORE-OM scores. Translation of the CORE-OM from English to Finnish was undertaken according to recommended protocols. Psychometric exploration was conducted in two samples: psychiatric patients (N = 201) and non-clinical participants (N = 209). Participation was voluntary and involved completion of all …
Molecular diagnosis of dermatofibrosarcoma protuberans: A comparison between reverse transcriptase-polymerase chain reaction and fluorescence in situ…
2011
Dermatofibrosarcoma protuberans (DFSP) is characterized by the presence of the t(17;22)(q22;q13) that leads to the fusion of the COL1A1 and PDGFB genes. This translocation can be detected by multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization (FISH) techniques. We have evaluated the usefulness of a dual color dual fusion FISH probe strategy for COL1A1/PDGFB detection in a series of 103 archival DFSPs and compared the obtained results with RT-PCR analyses. FISH and RT-PCR were carried out on paraffin embedded tissue samples. Regarding the RT-PCR approach, all COL1A1 exons and exon 2 of PDGFB were evaluated. Sensitivity, specificity, positi…
A phase I pharmacokinetic and pharmacodynamic study of dalotuzumab (MK-0646), an anti-insulin-like growth factor-1 receptor monoclonal antibody, in p…
2011
Abstract Purpose: Insulin-like growth factor-1 receptor (IGF-1R) mediates cellular processes in cancer and has been proposed as a therapeutic target. Dalotuzumab (MK-0646) is a humanized IgG1 monoclonal antibody that binds to IGF-1R preventing receptor activation. This study was designed to evaluate the safety and tolerability of dalotuzumab, determine the pharmacokinetic (PK) and pharmacodynamic (PD) profiles, and identify a recommended phase II dose. Experimental Design: Patients with tumors expressing IGF-1R protein were allocated to dose-escalating cohorts of three or more patients each and received intravenous dalotuzumab weekly, every 2 or 3 weeks. Plasma was collected for PK analysis…
Occurrence of Cerebral Venous Sinus Thrombosis in Patients with Presumed Idiopathic Intracranial Hypertension
2005
Purpose To report the rate of occurrence of cerebral venous sinus thrombosis (CVST) in patients with presumed idiopathic intracranial hypertension (IIH). Design Retrospective chart review. Participants All patients diagnosed with papilledema from November 1, 2002, through October 31, 2003, at 3 tertiary care neuro-ophthalmology centers. Methods Consecutive patients with a diagnosis of papilledema from 3 tertiary care neuro-ophthalmology centers were identified. Patients with space-occupying lesions, hydrocephalus, or meningitis were excluded. The remaining patients were evaluated with lumbar puncture, magnetic resonance imaging (MRI), and magnetic resonance venography (MRV). Main Outcome Me…
Transient seizure onset network for localization of epileptogenic zone: effective connectivity and graph theory-based analyses of ECoG data in tempor…
2018
Objective: Abnormal and dynamic epileptogenic networks cause difficulties for clinical epileptologists in the localization of the seizure onset zone (SOZ) and the epileptogenic zone (EZ) in preoperative assessments of patients with refractory epilepsy. The aim of this study is to investigate the characteristics of time-varying effective connectivity networks in various non-seizure and seizure periods, and to propose a quantitative approach for accurate localization of SOZ and EZ. Methods: We used electrocorticogram recordings in the temporal lobe and hippocampus from seven patients with temporal lobe epilepsy to characterize the effective connectivity dynamics at a high temporal resolution …
Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications
2010
The Lubs X-linked mental retardation syndrome (MRXSL) is caused by small interstitial duplications at distal Xq28 including the MECP2 gene. Here we report on four novel male patients with MRXSL and different Xq28 duplications delineated by microarray-based chromosome analysis. All mothers were healthy carriers of the duplications. Consistent with an earlier report [Bauters et al. (2008); Genome Res 18: 847-858], the distal breakpoints of all four Xq28 duplications were located in regions containing low-copy repeats (LCRs; J, K, and L groups), which may facilitate chromosome breakage and reunion events. The proximal breakpoint regions did not contain known LCRs. Interestingly, we identified …
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
2015
Background Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome related disorders frequently extends the phenotype to tissues such as the eye, kidney, skeleton and craniofacial structures. Results Using autozygome and exome analyses, we identified a null mutation in KIAA0556 in a multiplex consanguineous family with hallmark features of mild Joubert syndrome. Patient-derived fibroblasts displayed reduced ciliogenesis potential and abnormally elongated cilia. Investigation of disease pathophysiology revealed that Kiaa0556-/- null mice possess…
Social exclusion influences conditioned fear acquisition and generalization: A mediating effect from the medial prefrontal cortex
2020
Abstract Fear acquisition and generalization play key roles in promoting the survival of mammals and contribute to anxiety disorders. While previous research has provided much evidence for the repercussions of social exclusion on mental health, how social exclusion affects fear acquisition and generalization has received scant attention. In our study, participants were divided into two groups according to two Cyberball paradigm conditions (exclusion/inclusion). Both groups underwent a Pavlovian conditioning paradigm, functional near-infrared spectroscopy (fNIRS), and skin conductance response (SCR) assessments. We aimed to determine the effects of social exclusion on fear acquisition and ge…