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PubMed2005

Computerized texture analysis of mammographic parenchymal patterns of digitized mammograms.

RATIONALE AND OBJECTIVES: Mammographic density and parenchymal patterns have been shown to be related to the risk of developing breast cancer. Thus, computerized texture analysis of breast parenchymal patterns on mammograms may be useful in assessing breast cancer risk. MATERIALS AND METHODS: A comparative evaluation was conducted of various computer-extracted texture features of mammographic parenchymal patterns of women with BRCA1/BRCA2 gene mutations and those of women at low risk of developing breast cancer. Mammograms from 172 subjects (30 women with either the BRCA1 or BRCA2 gene mutation and 142 low-risk women) were analyzed. Computerized texture features were extracted from regions-of-interest to assess the mammographic parenchymal patterns in the images. Receiver operating characteristic analysis was used to assess the performance of these features in the task of distinguishing between the two groups of women. RESULTS: Quantitative texture analysis on digitized mammograms demonstrated that gene-mutation carriers and low-risk women have different mammographic parenchymal patterns. Gene-mutation carriers presented with parenchymal patterns that were denser, coarser, and lower in contrast than those of the low-risk group. For the gene-mutation carriers, their mammographic patterns appear to contain less high-frequency component as indicated by higher coarseness values, lower fractal dimensions, and smaller edge gradients, which yielded corresponding A(z) values of 0.79, 0.84, and 0.78, respectively, in the task of distinguishing between gene-mutation carriers and the low-risk group with the entire dataset. The contrast measure calculated from co-occurrence matrix method, which describes local image variation, yielded an A(z) value of 0.86 in distinguishing between the two groups of women. CONCLUSION: Computerized texture analysis of mammograms provides radiographic descriptors of mammographic parenchymal patterns. The computer-extracted features may be useful for identifying women at high risk for breast cancer and for monitoring the treatment of breast cancer patients.

Adult↗
PubMed2006

Upper and lower pharyngeal airways in subjects with Class I and Class II malocclusions and different growth patterns.

INTRODUCTION: Associations of Class II malocclusions and vertical growth pattern with obstruction of the upper and lower pharyngeal airways and mouth breathing have been suggested. This implies that these malocclusion characteristics have a predisposing anatomical factor for these problems. Therefore, the purpose of this study was to compare upper and lower pharyngeal widths in patients with untreated Class I and Class II malocclusions and normal and vertical growth patterns. METHODS: The sample comprised 80 subjects divided into 2 groups: 40 Class I and 40 Class II, subdivided according to growth pattern into normal and vertical growers. The upper and lower pharyngeal airways were assessed according to McNamara's airways analysis. The intergroup comparison of the upper and lower airways was performed with 1-way ANOVA and the Tukey test as a second step. RESULTS: The results showed that the upper pharyngeal width in the subjects with Class I and Class II malocclusions and vertical growth patterns was statistically significantly narrower than in the normal growth-pattern groups. CONCLUSIONS: Subjects with Class I and Class II malocclusions and vertical growth patterns have significantly narrower upper pharyngeal airways than those with Class I and Class II malocclusions and normal growth patterns. However, malocclusion type does not influence upper pharyngeal airway width, and malocclusion type and growth pattern do not influence lower pharyngeal airway width.

Airway Obstruction↗
PubMed2005

The use of patterned dual thermoresponsive surfaces for the collective recovery as co-cultured cell sheets.

Heterotypic cell interactions are critical to achieve and maintain specific functions in many tissues and organs. We have focused on patterned structure surfaces to enable co-culture of heterotypic cells and recovery of patterned co-cultured cell sheets for applications in tissue engineering. Thermoresponsive polymers exhibiting different transition temperatures in water comprise both poly(N-isopropylacrylamide) (PIPAAm) and n-butyl methacrylate (BMA) co-grafted as side chains to PIPAAm main chains. These copolymers were surface-grafted in patterns to obtain patterned dual thermoresponsive cell culture surfaces using electron beam polymerisation method and porous metal masks. On patterned surfaces, site-selective adhesion on and growth of rat primary hepatocytes (HCs) and bovine carotid endothelial cells (ECs) allowed patterned co-culture, exploiting hydrophobic/hydrophilic surface chemistry regulated by culture temperature as the sole variable. At 27 degrees C, seeded HCs adhered exclusively onto hydrophobic, dehydrated P(IPAAm-BMA) co-grafted domains (1-mm laser dot), but not onto neighbouring hydrated PIPAAm domains. Sequentially seeded ECs then adhered exclusively to hydrophobised PIPAAm domains upon increasing culture temperature to 37 degrees C, achieving patterned co-cultures. Reducing culture temperature to 20 degrees C promoted hydration of both polymer-grafted domains, permitting release of the co-cultured, patterned cell monolayers as continuous cell sheets with heterotypic cell interactions. Recovered co-cultured cell sheets can be manipulated, moved and sandwiched with other structures, providing new useful constructs both for basic cell biology research and preparation of tissue-mimicking multi-layer materials through overlaying co-cultured cell sheets.

Acrylic Resins↗
PubMed2006

In situ observation of biomolecules patterned on a PEG-modified Si surface by scanning probe lithography.

A Si(100) wafer was modified with methoxy-poly(ethylene glycol) (M-PEG silane) via a self-assembly technique and nano-/micro-sized patterns were then fabricated by scanning probe lithography. The protrusive silicon dioxide pattern was more reactive compared to the non-patterned area, i.e. the PEG deposited area. To demonstrate the feasibility of the submicron patterning of protein based on the anodic oxidation of the Si surface by atomic force microscopy (AFM), streptavidin labelled with Au-colloidal particle and non-labelled streptavidin were site-selectively immobilized on the patterned areas. The streptavidin-patterned surface produced by these procedures can be utilized for the detection of biotinylated materials, such as an antibody and an antigen. A patterned silicon surface is the basis of biosensing devices, in which the patterned areas serve as sensing elements that directly interact with bioanalytes, while the background of the substrate remains passive to the deposition of analytes, thus resulting in a high signal-to-noise ratio.

Biosensing Techniques↗
PubMed2004

EEG-dependent ERP recording: using TMS to increase the incidence of a selected pre-stimulus pattern.

EEG dependent event-related potential (ERP) recording (interactive ERP) is an extension to ERP paradigms whereby stimuli are initiated in response to a selected pattern of background EEG. This form of recording is critically dependent upon the incidence of the particular pattern of interest. We introduce here a process that modifies the EEG in a predictable manner so as to increase the incidence of a particular pattern. Transcranial magnetic stimulation (TMS) stimuli are applied in response to a selected pattern of pre-TMS activity, and the post-TMS response is characterized by the incidence of a defined pattern of EEG activity. Analysis of validation test results obtained with the TMS modification part of the process verifies an increased incidence of the response pattern after TMS stimuli, compared with placebo stimuli. The TMS modification procedure is then combined with interactive ERP recording in a two step process to affect the ERP response to sensory stimuli. The post-TMS pattern from the first step becomes the pre-stimulus pattern of the interactive ERP recording in the second step. The TMS modified interactive ERP (TMIERP) process is illustrated here using an auditory oddball paradigm. The amplitude of the P300 peak obtained using this process was significantly higher than that obtained using the standard auditory oddball paradigm.

Acoustic Stimulation↗
PubMed2004

On the spatio-temporal organisation of quadratic phase-couplings in 'tracé alternant' EEG pattern in full-term newborns.

OBJECTIVE: The time courses of quadratic phase-coupling (QPC) of electroencephalographic burst and interburst patterns of the 'trace alternant' (TA) in full-term newborns have been quantified. METHODS: Using the Gabor expansion, a fast Fourier transformation based method, biamplitude, bicoherence and phase-bicoherence time courses of both burst and interburst patterns have been determined (common average reference EEG recordings). With a frequency resolution of 0.25 Hz and a frequency grid of 1-1.5 <==> 3.5-4.5 Hz (region-of-interest), a number of 15 frequency pairs result. These pairs have been investigated. RESULTS: The burst and the interburst patterns are characterized by temporally and topographically different QPC profiles. All differences are dominant at the electrode Fp1 followed by Fp2. There is a significant difference (combined multiple and global test strategy) in the QPC characteristics between both patterns within the time period from 0.75 to 1.5 s after the pattern onset at electrode Fp1. The maximal QPC in burst patterns (especially at Fp1) can be observed during this time period. In contrast to this finding, maximal QPC in interburst patterns (at Fp1) are reached immediately after the onset and at 3 s. Summarising all findings, a QPC-rhythm of 0.1 Hz during TA can be assumed. CONCLUSIONS: It can be assumed that the QPC rhythm of the TA is generated by a pattern-spanning time-variant phase-locking process and there are indications for a possible correspondence between the QPC rhythm and vegetative rhythms. SIGNIFICANCE: This study showed that advanced, time-variant analysis methods quantifying QPC rhythms are able to add new scientific information to the understanding of nature, characteristics and significance of TA in the neonatal EEG.

Algorithms↗
PubMed2006

Tracking pattern learning with single-trial event-related potentials.

OBJECTIVE: The main aim was to track the dynamics of pattern-learning using single-trial event-related potentials (ERPs). A new 'learning-oddball' paradigm was employed presenting eight random targets (the 'no-pattern') followed by eight regular targets (the 'pattern'). In total, six repetitions of the 'no-pattern' followed by the 'pattern' were presented. METHODS: We traced the dynamics of learning by measuring responses to 16 (eight random-eight regular) targets. Since this alternation of the 'no-pattern' followed by the 'pattern' was repeated six times, we extracted single-trial responses to all 96 targets to determine if learning occurred more rapidly with each repetition of the 'pattern.' RESULTS: Following random targets, ERPs contained a marked P3-N2 component that decreased to regular targets, whereas a contingent negative variation (CNV) appeared. ERP changes could be best described by sigmoid 'learning' curves. Single-trial analyses showed that learning occurred more rapidly over repetitions and suggested that the CNV developed prior to the decay of the N2-P3 component. CONCLUSIONS: We show a new paradigm-analysis methodology to track learning processes directly from brain signals. SIGNIFICANCE: Single-trial ERPs analyses open a wide range of applications. Tracking the dynamic structure of cognitive functions may prove crucial in the understanding of learning and in the study of different pathologies.

Acoustic Stimulation↗
PubMed2005

Serial high resolution CT in non-specific interstitial pneumonia: prognostic value of the initial pattern.

AIM: To assess the relationship between initial CT pattern and serial changes in CT findings and pulmonary function tests (PFTs) in patients with non-specific interstitial pneumonia (NSIP). MATERIALS AND METHODS: Serial high resolution (HR) CTs and PFTs were retrospectively analyzed in 38 cases of histologically proven NSIP, including 4 with cellular NSIP, 13 with mixed cellular and fibrotic NSIP, and 21 with fibrotic NSIP. The presence and extent of various CT findings were assessed. A fibrosis index (defined as the ratio of the extent of a reticular/honeycomb pattern to the overall extent of abnormal parenchyma) was derived. RESULTS: The predominant CT pattern was reticular/honeycomb in 27 (84%) cases and ground-glass/consolidation in 6 (16%) cases. Between scans, mean disease extent reduced by 5.2%. Disease extent reduced by >10% in 13 (34%) and increased by >10% in 6 (16%) patients. Histopathological subtype of NSIP did not correlate with individual CT pattern, predominant pattern, fibrosis index or serial change in disease extent on CT or PFTs. Response on follow-up CT was associated with fibrosis index, predominant pattern and extent of consolidation on initial CT. CONCLUSION: In NSIP disease, progression on CT correlates with the predominant CT pattern, fibrosis index, and extent of consolidation but not with histopathological subtype. An inflammatory (ground-glass/consolidation) predominant pattern is associated with better outcome in terms of disease extent on HRCT.

Disease Progression↗
PubMed2005

Analysis of differences in amino acid substitution patterns, using multilevel G-tests.

In this paper, a new algorithm is presented, which makes possible multilevel comparison of BLOSUM protein substitution matrices based on data from different groups of organisms. As an example, a comparison between substitution matrices based on data from two groups of bacterial genomes with different GC content is presented. Our approach includes evaluating the number of amino acid pairs in BLOCKS databases created separately for the two groups of bacteria using protein sequences deposited in the COG database. Differences of distributions of amino acid pair counts are tested using the chi-squared based G-test. Different analysis levels make it possible to distinguish different patterns of amino acid substitution. Application of the algorithm reveals statistically significant differences in amino acid substitution patterns between AT-rich and GC-rich groups of bacterial organisms. The differences are particularly visible in the overall substitution pattern, amino acid conservation pattern and in comparison of substitution patterns for single amino acids. The algorithm presented in this paper can be considered a novel method for multi-level comparison of amino acid substitution patterns. The presented approach is not limited to bacterial organisms and BLOSUM substitution matrices. Statistically significant differences between substitution patterns in the two groups of bacterial organisms with respect to amino acid conservation pattern can be the evidence of different rate of evolutionary change between AT-rich and GC-rich bacterial organisms.

Algorithms↗
PubMed2005

Gender-specific 5-HT1A receptor changes in BrdU nuclear labeling patterns in neonatal dentate gyrus.

The actions of 5-HT1A receptors on cell proliferation in the rat neonatal dentate gyrus are unknown. We injected a 5-HT1A receptor agonist (ipsapirone) or antagonist (Way 100635) 1 h before injections of BrdU in neonates of both genders between days 2-4, a peak time of dentate gyrus granule cell proliferation. The BrdU immunoreactive (IR) nuclei in the granule cell layer and subgranular zone were examined after 2 weeks. The BrdU-IR nuclear staining patterns were classified as being either diffuse (homogenous dark BrdU-staining throughout the nucleus) or punctate (multiple distinct small stained spots within the nucleus). Most BrdU-labeled nuclei with a diffuse pattern were seen in the subgranular zone while the punctate pattern nuclei were seen within the granular cell layer of the dentate gyrus. 5-HT1A antagonist showed no overall change in absolute number or pattern of labeled nuclei compared to control animals. After a 5-HT1A agonist, there was also no differences in the total number of BrdU-IR nuclei (punctate and diffuse pattern). However, in both genders, the proportion of the BrdU-labeled nuclei showing a punctate compared to diffuse pattern increased: 33% in females and 18% in males. In females, the 5-HT1A receptor agonist increased the number of nuclei showing a punctate pattern by 41%, while in males the 5-HT1A receptor agonist decreased the number of nuclei showing a diffuse pattern by 29%. These results indicate gender-specific 5-HT1A receptor action on the state of nuclear DNA in the cells of the dentate gyrus, without increasing the total number of BrdU-labeled nuclei.

Analysis of Variance↗
PubMed2005

Distribution of sleep and wakefulness EEG patterns in 24-h recordings of preterm and full-term newborns.

The aim of this study was to evaluate the organisation of EEG patterns in 24-h recordings of preterm and near-term neonates. In particular, the distribution of the different EEG codes at different postmenstrual ages (PMA) and the variations of sleep-related EEG pattern organisation was studied, during day (8.00 a.m.-8.00 p.m.) and night (8.00 p.m.-8.00 a.m.) time. The age of appearance of different neonatal EEG patterns, previously described in literature for short lasting records, was confirmed in this 24-h study. The medium-voltage continuous EEG pattern (pattern "3") was less represented approaching term age, in coincidence with the appearance of the two low-voltage continuous patterns ("1" and "2"), which are also related to active sleep and wakefulness. Discontinuous pattern ("7") was also less represented with age, but in day-time only. The percentage of time occupied by this pattern, related to quiet sleep, was significantly higher during day-time hours, than at night.

Circadian Rhythm↗
PubMed2006

Intraoperative mapping of the right atrial free wall during sinus rhythm: variety of activation patterns and incidence of postoperative atrial fibrillation.

OBJECTIVE: The atrial conduction properties associated with cardiac disease are speculated as the background of postoperative atrial fibrillation (POAF). We examined the atrial conduction patterns and conduction properties during sinus rhythm (SR) in patients that had undergone cardiac operations and evaluated the incidence of POAF in all patients. METHODS: Fifty-two patients with stable SR who underwent cardiac surgery, with a diagnosis of valvular disease in 25, ischemic heart disease in 24, and others in 3, were enrolled in this study. The epicardial recordings were made using a mapping system with 60 unipolar electrodes placed on the right atrium (RA) intraoperatively. The activation patterns of the RA were assessed, and the longitudinal, transverse and oblique conduction velocity and max anisotropic ratio were also examined. RESULTS: Sinus activation was initiated from various sites (single origin at the high-lateral RA in 40, mid-lateral RA in 4, low-lateral RA in 2, and multiple origins in 6 patients) and it demonstrated anisotropic conduction (1.8+/-0.6) with the longitudinal conduction being more rapid than transverse and oblique conduction. Fifteen patients demonstrated non-uniform activation patterns such as, a localized conduction delay in seven, functional conduction block in two and mosaic-activation pattern associated with multiple origins in six. A total of 21 patients (44%) developed POAF. A conduction delay and mosaic activation pattern was found significantly more often in patients with POAF than in patients who remained in sinus rhythm. Multivariate analysis revealed that non-uniform activation pattern (odds ratio=8.71; 95% confidence interval [CI]=1.74-43.67; p=0.008) and TR (odds ratio=4.95; 95% CI=1.14-21.37; p=0.032) were independently associated with the development of POAF. Although all patients had converted to SR at the time of discharge, the administration of antiarrhythmic drugs caused sinus bradycardia in two patients who demonstrated a mosaic activation pattern in RA. CONCLUSIONS: Cardiac surgery patients exhibited a variety of sinus activation patterns, which also provided an arrhythmogenic substrate for POAF. A better understanding of the sinus activation using an intraoperative mapping system may provide benefit in the clinical management of POAF.

Adult↗
PubMed2004

Using tree analysis pattern and SELDI-TOF-MS to discriminate transitional cell carcinoma of the bladder cancer from noncancer patients.

OBJECTIVE: To determine whether SELDI protein profiling of urine coupled with a tree analysis pattern could differentiate TCC from noncancer patients. METHODS: The ProteinChip Arrays were performed on a ProteinChip PBS II reader of the ProteinChip Biomarker System. The study was divided into two phases: a preliminary phase with construction of tree analysis pattern, and a testing phase with test urine samples. Generation of the tree analysis pattern was performed by a training data set consisting of 104 samples. The validity of the tree analysis pattern was then challenged with a test set of 68 samples. RESULTS: Average of 187 mass peaks was detected in the urine samples, and five of these peaks were used to construct the tree analysis pattern. The classification pattern correctly predicted 91.67-94.64% of the samples for both of the two groups in the training set, for an overall correct classification of about 93%. The pattern correctly predicted 72.0% (49 of 68) of the test samples, with 71.4% (25 of 35) of the TCC samples, 72.7% (24 of 33) of the noncancer samples. CONCLUSIONS: The high sensitivity and specificity obtained by the urine protein profiling approach demonstrate that SELDI-TOF-MS combined with a tree analysis pattern can both facilitate discriminate TCC bladder cancer with noncancer and provide an innovative clinical diagnostic platform improve the detection of TCC bladder cancer patients.

Adult↗
PubMed2003

Twenty-four-hour pattern of mouse intraocular pressure.

The 24-hr pattern of intraocular pressure in the mouse eye remains poorly characterized. The present study was undertaken to determine the magnitude, dynamic pattern, and synchrony of the 24-hr pattern of intraocular pressure (IOP) in NIH Swiss mice exposed to a 12-hr light/dark cycle or to constant light. IOP was measured every 3 hr using a microneedle method. Mice exposed to a 12-hr light /dark cycle were either measured repeatedly at 1 week interval (group 1) or were only measured once (group 2). A third group was exposed to constant light for 2 weeks prior to IOP measurements. The 24-hr IOP pattern in the first and second groups showed a similar rhythmic pattern that appeared to be sinusoidal. This IOP pattern declined in the morning until 12:00, and then increased in the early evening until 21:00. In contrast, IOP in the third group was asynchronous with some mice exhibiting multiple peaks and troughs during the 24-hr period. These results show that 24-hr IOP pattern in mouse eyes is biphasic and that extended exposure to constant light disrupts this 24-hr IOP pattern.

Animals↗
PubMed2005

Limiting the recruitment of degrees of freedom reduces the stability of perception-action patterns.

The goal of the present study was to examine how recruiting/suppressing degrees of freedom affects the (differential) stability of two rhythmic perception-action patterns. In particular, participants synchronized either adduction-on-the-beat or abduction-on-the-beat movements of the right index finger with an auditory metronome. The stability of both patterns as performed in the horizontal plane was predicted to depend on the utilization, or recruitment, of the vertical plane of motion. Movements of the index finger were either free or physically restricted to the horizontal plane. The results showed that in the free condition, the vertical plane was recruited more in the more stable pattern (abduction-on-the-beat) than in the less stable pattern (adduction-on-the-beat). In the constrained condition, abduction-on-the-beat pattern was destabilized, whereas the stability of the adduction-on-the-beat pattern was preserved. These results suggest that the recruitment of the vertical plane of motion in the abduction-on-the-beat movements brought about an increase in the stability of this pattern. More generally, the trade-off between the stability of coordination patterns in the horizontal plane is based on a self-organizing process of recruitment in which neuromuscular factors are an intrinsic aspect.

Adult↗
PubMed2005

Comparative study on the relationship between photoperiodic host-seeking behavioral patterns and the eye parameters of mosquitoes.

Relationships between the ommatidial structure and photoperiodic behavior of several mosquito species were investigated. Host-seeking behavioral patterns of mosquitoes were classified into four main groups based on previously compiled reports on field or laboratory biting activity. These groups were pattern I and I' (nocturnal), pattern II (crepuscular and nocturnal), pattern III (crepuscular and diurnal), and pattern IV (diurnal). Eye parameters (product of facet diameter and interommatidial angle) of mosquitoes that belong to the pattern I and I' group were higher (2.7-4.2) than those of mosquitoes that belong to the pattern IV group (0.8-2.3). Eye parameters of the mosquitoes categorized in the pattern II and III groups were intermediate (2.3-2.6). These results suggest that the crepuscular behavior of mosquitoes undergoes a transition in the course of evolution from nocturnal behavior to diurnal behavior. Large variations in the eye parameters were observed even within the same genus depending on their photoperiodic behavior. Therefore, the ommatidial structure of mosquitoes appears to be determined, not taxonomically, but evolutionarily by the photoenvironment in which the mosquitoes are most active.

Animals↗
PubMed2005

Photo-chemically patterned polymer surfaces for controlled PC-12 adhesion and neurite guidance.

The in vitro assembling of cellular networks offering control over cell positions and connectivities by patterned culture substrates is a valuable tool for neuroscience research and other applications in cell biology. We developed a versatile technique based on polymer surface modification which allows the patterning of different cell lines for advanced tissue engineering, among them are Pheochromocytoma cells (PC-12). In contrast to other techniques applied for surface patterning, the presented photo patterning by deep UV irradiation is applicable to the widely used cell culture substrate material polystyrene (PS) and should be easily performed in most laboratories. Irradiation of polystyrene with UV radiation of lambda = 185 nm yields mainly carboxyl groups at the polymer surface which can be used to control the spontaneous competitive protein adsorption from serum containing culture media [Welle A, Gottwald E. UV-based patterning of polymeric substrates for cell culture applications. Biomed. Microdev. 2002;4:33-41] or to serve as defined coupling sites for controlled protein/peptide immobilization. Extending our previous studies on patterning hepatoma cells and fibroblasts via spatially defined plasma protein adsorption, we here describe an advanced application to produce patterns of cell repellent albumin domains and cell attractive laminin regions for the patterning of Pheochromocytoma cells.

Animals↗
PubMed2005

CCR5Delta32 polymorphism effects on CCR5 expression, patterns of immunopathology and disease course in multiple sclerosis.

Four distinct patterns of tissue injury have been described in multiple sclerosis (MS) lesions. Infiltrating monocytes in lesions of all patterns co-express CCR1 and CCR5. However, in pattern II lesions, the number of CCR1 cells is decreased, while the number of CCR5 expressing cells is increased in late active versus early active regions. In contrast, CCR1 and CCR5 cells were equal in all regions of pattern III lesions. These suggest distinct inflammatory microenvironments in pattern II and III lesions and support MS pathological heterogeneity. A deletion in CCR5 (CCR5*Delta32), which encodes a truncated, non-functional protein, has been associated with late onset of MS and a favorable prognosis. We studied the association of CCR5*Delta32 with the course and severity of MS in 221 patients from a population-based cohort in Olmsted County, MN, and with patterns of immunopathology in 94 patients with biopsy-derived, pathologically confirmed demyelinating disease participating in the MS Lesion Project. The frequency of the genotypes in 221 patients from Olmsted County, MN, was 167 (75.6%) wild type, 52 (23.5%) heterozygotes, and 2 (0.9%) homozygotes. There was no association of carrier status for the CCR5*Delta32 mutation with disease severity as analyzed using the disease severity score (ranking of EDSS/duration stratified by duration), age of onset, gender or disease course (bout onset versus primary progressive). Due to low frequency of homozygotes no conclusion can be made regarding their relation to heterozygosity or wild-type status. The frequency of genotypes in the 94 biopsies was 77 (81.9%) wild type, 15 (16.0%) heterozygotes and 2 (2.1%) homozygotes. Carrier status for the CCR5*Delta32 mutation was not associated with patterns of immunopathology in MS. Despite similar numbers of T-lymphocytes, there were no CCR5+ T-cells nor was CCR5 expressed in the CNS of a homozygous CCR5*Delta32 MS patient, and heterozygous patients had reduced CCR5 expression compared to wild type patients. CCR5*Delta32 has a dose effect on CCR5 expression in the CNS, but is neither necessary for development of MS, nor CD3+ T cell recruitment into the CNS. Furthermore it does not segregate with patterns of immunopathology in MS. We did not find an association between CCR5*Delta32 mutation and disease severity and age of onset in MS.

Adult↗