Search results for "Base"
showing 10 items of 8362 documents
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.
2003
Desminopathy is a familial or sporadic cardiac and skeletal muscular dystrophy associated with mutations in desmin. We have previously characterized a de novo desmin R406W mutation in a patient of European origin with early onset muscle weakness in the lower extremities and atrioventricular conduction block requiring a permanent pacemaker. The disease relentlessly progressed resulting in severe incapacity within 5 years after onset. We have now identified three other patients with early onset rapidly progressive cardiac and skeletal myopathy caused by this same desmin R406W mutation. The mutation was present in each studied patient, but not in their parents or other unaffected family member…
Randomized study comparing two tongue base surgeries for moderate to severe obstructive sleep apnea syndrome
2009
To compare the effectiveness and morbidity of the tongue base radiofrequency and tongue base suspension techniques combined with uvulopalatopharyngoplasty for moderate to severe obstructive sleep apnea.Prospective and randomized surgical trial at a university hospital.In total, 57 patients received either tongue base radiofrequency reduction (n = 29) or tongue base suspension (n = 28). Apnea-hypopnea index, lowest oxygen saturation (polysomnography), Epworth score, and side effects were assessed. Success was defined as aor =50 percent reduction and final apneahypopnea index15/h, and an Epworth score11.The success rates of the two procedures were 57.1 percent and 51.7 percent, respectively (…
Cloning of the human NCNF gene.
1998
We have cloned from a cDNA library of human testis tissue the human homologue to the mouse nuclear orphan receptor NCNF (neuronal cell nuclear factor). The open reading frame encodes a protein of 480 amino acids, the sequence of which (EMBL accession no. X99975) is 98.3% identical to the mouse homologue. Northern blot analysis of adult human tissues revealed a broad pattern of tissue expression. Similar to NCNF expression in mouse testis, two transcript forms of the single copy gene are expressed in human tissues. The two transcript forms which differ only in their 3'UTR, result in human from differential polyadenylation, in mouse from alternative splicing. Based on the high level of sequen…
Intrathecal somatic hypermutation of IgM in multiple sclerosis and neuroinflammation
2014
Intrathecal oligoclonal bands of the cerebrospinal fluid are considered the most important immunological biomarkers of multiple sclerosis. They typically consist of clonally expanded IgG antibodies that underwent affinity maturation during sustained stimulation by largely unknown antigens. In addition, ∼40% of patients with multiple sclerosis have oligoclonal bands that consist of expanded IgM antibodies. We investigated the molecular composition of IgM- and IgG-chains from cerebrospinal fluid of 12 patients with multiple sclerosis, seven patients with other neurological diseases, and eight healthy control subjects by high-throughput deep-sequencing and single-cell PCR. Further, we studied …
Radiofrequency electromagnetic fields emitted from base stations of DECT cordless phones and the risk of glioma and meningioma (Interphone Study Grou…
2006
The objective of this study was to test the hypothesis that exposure to continuous low-level radiofrequency electromagnetic fields (RF EMFs) increases the risk of glioma and meningioma. Participants in a population-based case-control study in Germany on the risk of brain tumors in relation to cellular phone use were 747 incident brain tumor cases between the ages of 30 and 69 years and 1494 matched controls. The exposure measure of this analysis was the location of a base station of a DECT (Digital Enhanced Cordless Telecommunications) cordless phone close to the bed, which was used as a proxy for continuous low-level exposure to RF EMFs during the night. Estimated odds ratios were 0.82 (95…
Conditional net survival: Relevant prognostic information for colorectal cancer survivors. A French population-based study
2015
Abstract Background Traditionally, survival estimates have been reported as survival from the time of diagnosis. A patient's probability of survival changes according to time elapsed since the diagnosis and this is known as conditional survival. The aim was to estimate 5-year net conditional survival in patients with colorectal cancer in a well-defined French population at yearly intervals up to 5 years. Methods Our study included 18,300 colorectal cancers diagnosed between 1976 and 2008 and registered in the population-based digestive cancer registry of Burgundy (France). We calculated conditional 5-year net survival, using the Pohar Perme estimator, for every additional year survived afte…
Occupational UV-Exposure is a Major Risk Factor for Basal Cell Carcinoma
2017
The aim of this study was to investigate the role of occupational and nonoccupational ultraviolet (UV)-exposure concerning the development of basal cell carcinoma (BCC).We undertook a population-based multicenter case-control study. Patients with first incident BCC (n = 836) were propensity score matched by age and sex to controls without skin cancer (n = 836). Sociodemographic characteristics, clinical characteristics, and lifetime UV-exposure were assessed by trained investigators. The differential estimation of occupational and nonoccupational UV-exposure dosages was based on validated instruments and established reference values. Associations were assessed using multivariable-adjusted c…
Quantitative sensory testing in the German Research Network on Neuropathic Pain (DFNS): Somatosensory abnormalities in 1236 patients with different n…
2009
Neuropathic pain is accompanied by both positive and negative sensory signs. To explore the spectrum of sensory abnormalities, 1236 patients with a clinical diagnosis of neuropathic pain were assessed by quantitative sensory testing (QST) following the protocol of DFNS (German Research Network on Neuropathic Pain), using both thermal and mechanical nociceptive as well as non-nociceptive stimuli. Data distributions showed a systematic shift to hyperalgesia for nociceptive, and to hypoesthesia for non-nociceptive parameters. Across all parameters, 92% of the patients presented at least one abnormality. Thermosensory or mechanical hypoesthesia (up to 41%) was more frequent than hypoalgesia (up…
A comparative study of the pharyngeal airway space, measured with cone beam computed tomography, between patients with different craniofacial morphol…
2014
Abstract Purpose The present study aims to determine any existing association between airway dimensions, measured with cone beam computed tomography (CBCT), and the different patient craniofacial morphologies. Material and methods Sixty CBCT (Dental Picasso Master 3D) images, from patients treated at the Orthodontics Master at Valencia University were selected. The program InVivoDental 5.1 was used to visualize sections, analyze three-dimensional images, and perform airway measurements in the three planes of the space. Intra- and interobserver error methods were recorded. After that, measurements at three different levels of the airway (upper, medium, lower) were taken, in both the anteropo…
Parental Physical Activity Associates With Offspring's Physical Activity Until Middle Age: A 30-Year Study.
2017
Background:Parents’ physical activity associates with their children’s physical activity. Prospective designs assessing this association are rare. This study examined how parents’ physical activity was associated with their children’s physical activity from childhood to middle adulthood in a 30-year prospective, population-based setting.Methods:Participants (n = 3596) were from the ongoing Cardiovascular Risk in Young Finns study started in 1980. Participants’ physical activity was self-reported at 8 phases from 1980 to 2011, and their parents’ physical activity at 1980. Analyses were adjusted for a set of health-related covariates assessed from 1980 to 2007.Results:High levels of mothers’ …