Search results for "Base"
showing 10 items of 8362 documents
Identification of two novel polymorphisms and a rare deletion variant in the human dopamine D4 receptor gene
1995
We report two novel polymorphisms and a rare deletion variant in the human dopaine D4 receptor gene. The two polymorphisms are characterized by single base pair substitutions, namely a G-->C transversion changing codon 11 from GGG (encoding Gly) to CGG (encoding Arg) and a C-->T transition in position -11 upstream from the start codon. The Arg11 variant occurs at a frequency of about 1% and the C-->T transition at a frequency of about 7% in German control subjects (n = 148). Allele frequencies observed in patients suffering from schizophrenia (n = 256) and bipolar affective disorder (n = 99) were similar. The deletion variant is characterized by a 21 bp deletion affecting codons 36 to 42 co…
A phase II study of pegylated liposomal doxorubicin oxaliplatin and cyclophosphamide as second-line treatment in relapsed ovarian carcinoma
2006
We carried out a phase II nonrandomized study to examine the level of activity of oxaliplatin, pegylated liposomal doxorubicin, and cyclophosphamide in a patient population with relapsed ovarian cancer pretreated with platinum derivatives and paclitaxel. Patients received oxaliplatin (85 mg/m2), pegylated liposomal doxorubicin (30 mg/m2), and cyclophosphamide (750 mg/m2). A total of 49 patients (39 assessable for toxicity and response) were enrolled in this trial. Neutropenia grade 3 was observed in six patients (15%) and anemia grade 3 in one patient (0.2%). Fatigue grade 1–2 occurred in 26 patients (66%), nausea/vomiting grade 1 in 23 patients (58%), and alopecia grade 1–2 in 19 patients …
Access to an online video enhances the consent process, increases knowledge, and decreases anxiety of caregivers with children scheduled for inguinal…
2019
Abstract Background There is limited time within the clinical workflow of most pediatric surgeons to obtain a comprehensive, well informed consent. This study evaluates whether ad-lib access to an online video on the consent dialogue enhances the consent process for inguinal hernia repair (IHR) in children. Methods The study was approved by the state ethics board. A 6-min video of a consent speech on IHR was produced and uploaded to a nonpublic online channel, explaining the condition, procedure, complications, and postoperative expectations. A total of 50 families were randomized to conventional, face-to-face consenting in clinic either with (intervention) or without (control) access to th…
Intratumoral Haemorrhage Causing an Unusual Clinical Presentation of a Vestibular Schwannoma
2012
We present a case of an elderly woman with no history of audiological disease with sudden onset of visual and hearing deficits associated with systemic clinical signs. On examination she had impairment of right CNs from V to X. CT and MR imaging demonstrated a cystic vestibular schwannoma with a rare intralesional fluid-fluid level correlated to a recent bleed. We include high quality MR images to show the acute impairment of the cranial nerves next to the tumour after acute bleeding. Our case report includes a voxel-based morphometry (VMB) analysis of the tumour that, as far as we know, has never been done before for such a tumour. VBM analysis was performed to calculate the hypothesized …
A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily
2005
Summary Background Lipoid proteinosis (LP), also known as Urbach–Wiethe disease, is a rare autosomal recessive disorder characterized by a hoarse voice, warty skin infiltration and scarring. Mutations within the extracellular matrix protein 1 (ECM1) gene cause LP. Objectives We report the molecular analysis of the ECM1 gene in a Sicilian patient with LP in order to extend the mutation spectrum of this genodermatosis. Methods We studied a 32-year-old female born from consanguineous parents who was diagnosed at the age of 11 years as having LP. She has a clinical phenotype corresponding to Urbach–Wiethe disease characterized by papules/nodules, indurated plaques and sometimes ulcerated les…
Papillary squamous cell carcinoma of the oropharynx.
2003
A case of papillary squamous cell carcinoma of the oropharynx is reported. The lesion was located in the base of the tongue and grossly presented a characteristic finger-like pattern of growth. The clinicopathological profile of the neoplasm is presented and the differential diagnosis with other exophytic squamous cell carcinomas is discussed.
Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey.
2011
Purpose: To use the Hunter Outcome Survey, an international database, to assess the safety and effectiveness of enzyme replacement therapy with idursulfase in patients with Hunter syndrome who started treatment before 6 years of age. Methods: The study population included all patients enrolled in the Hunter Outcome Survey who started idursulfase infusions (0.5 mg/kg every other week) before 6 years of age and who had at least one follow-up examination recorded. Results: The study population included 124 patients, younger than 6 years, who had a mean age at start of idursulfase of 3.6 ± 1.6 years (mean ± SD). The mean duration of treatment was 22.9 ± 14.6 months. A total of 69 infusion-relat…
The histology of brain tumors for 67 331 children and 671 085 adults diagnosed in 60 countries during 2000-2014: a global, population-based study (CO…
2021
Abstract Background Global variations in survival for brain tumors are very wide when all histological types are considered together. Appraisal of international differences should be informed by the distribution of histology, but little is known beyond Europe and North America. Methods The source for the analysis was the CONCORD database, a program of global surveillance of cancer survival trends, which includes the tumor records of individual patients from more than 300 population-based cancer registries. We considered all patients aged 0-99 years who were diagnosed with a primary brain tumor during 2000-2014, whether malignant or nonmalignant. We presented the histology distribution of th…
On the complementarity of holistic and analytic approaches to performance assessment scoring.
2019
BACKGROUND A holistic approach to performance assessment recognizes the theoretical complexity of multifaceted critical thinking (CT), a key objective of higher education. However, issues related to reliability, interpretation, and use arise with this approach. AIMS AND METHOD Therefore, we take an analytic approach to scoring students' written responses on a performance assessment. We focus on the complementarity of holistic and analytic approaches and on whether theoretically developed analytical scoring rubrics can produce sub-scores that may measure the 'whole' performance in a holistic assessment. SAMPLE We use data from the Wind Turbines performance assessment, developed in the iPAL p…
Somatotopic organization of the corticospinal tract in the human brainstem: a MRI-based mapping analysis.
2005
To investigate the incompletely understood somatotopical organization of the corticospinal tract in the human brainstem, we performed a voxel-based statistical analysis of standardized magnetic resonance scans of 41 prospectively recruited patients with pyramidal tract dysfunction caused by acute brainstem infarction. Motor hemiparesis was rated clinically and by the investigation of motor evoked potentials to arms and legs. Infarction affected the pons in 85% of cases. We found the greatest level of significance of affected brainstem areas between the pontomesencephalic junction and the mid pons. Lesion location was significantly more dorsal in patients with hemiparesis affecting more prox…