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PubMed2006

The Cinderella story of metabolic profiling: does metabolomics get to go to the functional genomics ball?

To date most global approaches to functional genomics have centred on genomics, transcriptomics and proteomics. However, since a number of high-profile publications, interest in metabolomics, the global profiling of metabolites in a cell, tissue or organism, has been rapidly increasing. A range of analytical techniques, including 1H NMR spectroscopy, gas chromatography-mass spectrometry (GC-MS), liquid chromatography-mass spectrometry (LC-MS), Fourier Transform mass spectrometry (FT-MS), high performance liquid chromatography (HPLC) and electrochemical array (EC-array), are required in order to maximize the number of metabolites that can be identified in a matrix. Applications have included phenotyping of yeast, mice and plants, understanding drug toxicity in pharmaceutical drug safety assessment, monitoring tumour treatment regimes and disease diagnosis in human populations. These successes are likely to be built on as other analytical and bioinformatic approaches are developed to fully exploit the information obtained in metabolic profiles. To assist in this process, databases of metabolomic data will be necessary to allow the passage of information between laboratories. In this prospective review, the capabilities of metabolomics in the field of medicine will be assessed in an attempt to predict the impact this 'Cinderella approach' will have at the 'functional genomic ball'.

Animals↗
PubMed2003

[Study of esthetic characteristic changes of soft tissue profile of patients with Angle Class division 1 malocclusion treated by functional regulator].

OBJECTIVE: Five esthetic indexes were used to evaluate the soft tissue profile changes of patients with Angle Class division 1 malocclusion treated by Functional Regulator. METHODS: 21 patients with Angle Class division 1 malocclusion were treated by functional regulator. Pretreatment and posttreatment cephalograms of every patient were traced to analyze the esthetic characteristic of soft tissue profile. RESULTS: Most of the indexes tended to normal after treatment. CONCLUSION: Soft tissue profile of most patients with Angle Class division 1 malocclusion was improved after functional orthopedics while changes were different individually. Second stage treatment was still required for some patients.

Beauty↗
PubMed2004

Defining the intellectual profile of Asperger Syndrome: comparison with high-functioning autism.

Asperger syndrome (AS) is a disorder of early childhood characterized by autistic social deficits, subtle communication impairment, and excessive isolated interests. There is no history of language delay or of mental retardation. Despite its increasing popularity as a distinct condition, its diagnostic validity remains uncertain. It is still unclear to what extent AS differs from autism with normal intelligence sometimes referred to as high-functioning autism (HFA). However, some reports have suggested that persons with AS possess a distinct profile on tests of intelligence characterized by a high verbal IQ and a low performance IQ, whereas in most cases with HFA, the pattern is reversed. Since few studies have directly compared AS subjects with HFA controls using unmodified diagnostic criteria and standardized measures of assessment, in this report we compared 22 AS subjects with 12 HFA controls, matched on age, sex and level of intelligence. As a group, subjects with AS showed a higher verbal IQ and higher scores on information and vocabulary subtests than those with HFA. However, scores of several AS and HFA subjects showed a mixed pattern. Implications of these findings are discussed in the context of the validity of Asperger Syndrome.

Asperger Syndrome↗
PubMed1981

Static and acuity profile perimetry at various adaptation levels.

Effects of target size, eccentricity and background luminance were determined for static and acuity profile perimetry in the central 30 degree radius of the visual field. Reductions in target size produced decreases in sensitivity for both functions, with acuity profiles (resolution sensitivity) being more affected than static profiles (detection sensitivity). At photopic background luminances, detection sensitivity was greatest at the fovea and progressively declined with increased eccentricity; lower background fovea. Resolution sensitivity for small targets (20/80 or less) exhibited a rapid decline with increasing eccentricity that was relatively independent of background luminance, whereas large targets (20/125 or greater) revealed findings similar to the detection sensitivity results. The relative contributions of rods and cones to threshold visual responses thus appear to depend on the type of visual task, target size, eccentricity, background luminance and their interactions. These data provide a comparison basis for future evaluations of patients with photoreceptor dysfunction.

Humans↗
PubMed2000

Prognosis of functional recovery 1 year after hip fracture: typical patient profiles through cluster analysis.

BACKGROUND: Many investigators have identified distinct medical, demographic and psychosocial prefracture conditions that influence the functional outcome of patients surgically treated for a fracture of the hip. However, to design efficient intervention care programs addressing the needs of these patients, at optimal economic and social costs, more information is required on the typical combinations of prognostic determinants actually encountered. METHODS: Data on specific descriptors of the prefracture status and on mobility and functioning 1 year after surgical intervention were collected by interview from 253 consecutive patients hospitalized for a fracture of the proximal femur. Cluster analysis was used to form homogeneous groups of patients with similar profiles in terms of the 13 predictive variables and the 7 outcome variables significantly interrelated. The modeling procedure generated four clusters of patients with a typical profile sharply contrasted by their structure. RESULTS: Subjects of two clusters could walk without difficulty and were functionally independent prior to their hip fracture. One year later, however, mobility and functioning were only fully recovered by the members of one cluster. The majority of predictors were of less favorable prognostic value for the members of the second cluster. The other two clusters regrouped patients with impaired prefracture mobility that were either unaltered or even aggravated 1 year later. CONCLUSIONS. Cluster analysis identified typical profiles of elderly hip fracture patients. Close scrutiny of their respective global structure, in terms of combined prognostic determinants and outcomes, may help to develop specific management strategies that are more efficiently adapted to these different groups of patients.

Activities of Daily Living↗
PubMed2000

Halo Profiles and the Nonlinear Two- and Three-Point Correlation Functions of Cosmological Mass Density.

We investigate the nonlinear two- and three-point correlation functions of the cosmological density field in Fourier space and test the popular hierarchical clustering model that assumes a scale-independent three-point amplitude Q. In high-resolution N-body simulations of both the n=-2 scale-free model and the cold dark matter model, we find that Q at late times is not constant but increases with wavenumber far into the nonlinear regime. Self-similar scaling also does not hold as rigorously for the three-point function as for the two-point function in the n=-2 simulation; this is perhaps a manifestation of the finite simulation volume. We suggest that a better understanding of the behavior of the two- and three-point correlation functions in the nonlinear regime lies in the link to the density profiles of dark matter halos. We demonstrate and quantify how the slopes of the correlation functions are affected by the slope of the halo profiles using simple halo shapes and analytic clustering models.

Journal Article↗
PubMed1999

Blood lipids and endothelial function in glycogen storage disease type III.

We have assessed early indicators of arterial disease in patients with glycogen storage disease type III (GSD III; McKusick 232400), investigating the plasma lipid and lipoprotein profile and endothelial function. Eleven patients, aged 10-39 years, were recruited together with age-, sex- and smoking status-matched controls. Brachial artery responses were assessed by high-resolution ultrasonographic measurement of the diameter of the brachial artery at baseline, after reactive hyperaemia and in response to sublingual glyceryl trinitrate (GTN). The means of plasma cholesterol (total and HDL and LDL subfractions), triglycerides, apo-A1, apo-B, Lp(a) and the atherogenic index were similar in both groups. Cardiac troponin I was below the lower limits of detection (< 0.03 g/L) in all subjects. The GSD III patients had similar body mass index (BMI) and brachial artery diameter to the control group (BMI 22.6 +/- 5.6 vs 22.3 +/- 5 kg/m2; brachial artery diameter 3.4 +/- 0.5 vs 3 +/- 0.7 mm). When compared to the baseline diameter, the maximal flow-mediated dilatation of the brachial artery after reactive hyperaemia was 9.3% +/- 2.1% (mean +/- SD) in the GSD III patients and 6.5% +/- 3.5% in the control group, a difference of 1.8% (95% CI 0.07% to 5.5%). The maximal dilatation of the brachial artery after GTN administration was 18.3% +/- 6.4% in the GSD III patients and 17.9% +/- 6.5% in the control group, a difference of 0.4% (95% CI-6.9% to 7.7%). In conclusion, we found no evidence of abnormal plasma lipid and lipoprotein profile or endothelial dysfunction in patients with GSD III. They are unlikely to be at increased risk of premature atherosclerosis.

Adolescent↗
PubMed1999

[Diurnal triglyceride profiles in 30 young healthy men as a function of diet, fasting triglyceride levels, body composition and insulin sensitivity].

OBJECTIVE: To study predictors of diurnal capillary triglyceride (TG-c) profiles in healthy males. DESIGN: Observational, cross-sectional. SETTING: University Hospital Utrecht, Department of Internal Medicine, the Netherlands. METHOD: In 30 healthy males (20-34 years) TG-c was measured during three days, six times a day. Fasting blood was collected at inclusion. Body composition and HOMA ratio as insulin sensitivity index were determined. TG-c profiles were calculated as integrated area under the mean TG-c curve (TG-AUC). RESULTS: All subjects had normal fasting plasma and capillary TG and cholesterol concentrations. Diurnal TG-c values were higher than fasting values. The average TG-AUC was 24.6 +/- 6.7 mmol/l over 14 hrs. Variables associated with TG-AUC were: fasting TG-c, relative fat mass, total protein and saturated fat intake. After correction for fasting TG-c only diet and fat mass were correlated with TG-AUC. The relative fat mass was positively correlated with the HOMA ratio and fasting insulin concentrations, suggesting that decreased insulin sensitivity accompanied increased body fat. CONCLUSION: Triglyceride profiles provide information about the total diurnal TG load. The best determinant of diurnal triglyceride changes was fasting triglycerides. However, diet, body composition and insulin sensitivity are also important. Future investigations should address the question whether triglyceride profiles may be used to estimate more accurately the individual risk profile for coronary heart disease.

Adult↗
PubMed2006

Profiling human phosphodiesterase genes and splice isoforms.

A mere 21 human phosphodiesterase (PDE) genes are responsible for modulating cellular levels of cAMP and cGMP in response to stimuli. Considering the importance of cAMP and cGMP to disparate physiological functions including visual response, smooth muscle relaxation, platelet aggregation, immune response, and cardiac contractibility, perhaps the 200 or more splice isoforms of PDE genes also play a major functional role. We profiled the human PDEs across 25 tissue samples using splice sensitive oligonucleotide microarrays containing probes for exons and exon-exon junctions. Our results suggest that PDEs exhibit tissue-specific differences in expression, as demonstrated by the high expression of PDE4B in skeletal muscle. At the splice variant level, the majority of PDE genes--notably 1A, 1C, 2A, 4C, 4D, 5A, 7A, 8A, 8B, 9A, 10A, and 11A--exhibited tissue-specific splicing with potential functional implications for PDE biology. This work validates expression of many EST transcripts, and confirms and expands on published findings based on PCR and cloning, illuminating some of the complexity of cAMP and cGMP processing.

1-Methyl-3-isobutylxanthine↗
PubMed2001

Transcript profiling in Candida albicans reveals new cellular functions for the transcriptional repressors CaTup1, CaMig1 and CaNrg1.

The pathogenic fungus, Candida albicans contains homologues of the transcriptional repressors ScTup1, ScMig1 and ScNrg1 found in budding yeast. In Saccharomyces cerevisiae, ScMig1 targets the ScTup1/ScSsn6 complex to the promoters of glucose repressed genes to repress their transcription. ScNrg1 is thought to act in a similar manner at other promoters. We have examined the roles of their homologues in C. albicans by transcript profiling with an array containing 2002 genes, representing about one quarter of the predicted number of open reading frames (ORFs) in C. albicans. The data revealed that CaNrg1 and CaTup1 regulate a different set of C. albicans genes from CaMig1 and CaTup1. This is consistent with the idea that CaMig1 and CaNrg1 target the CaTup1 repressor to specific subsets of C. albicans genes. However, CaMig1 and CaNrg1 repress other C. albicans genes in a CaTup1-independent fashion. The targets of CaMig1 and CaNrg1 repression, and phenotypic analyses of nrg1/nrg1 and mig1/mig1 mutants, indicate that these factors play differential roles in the regulation of metabolism, cellular morphogenesis and stress responses. Hence, the data provide important information both about the modes of action of these transcriptional regulators and their cellular roles. The transcript profiling data are available at http://www.pasteur.fr/recherche/unites/RIF/transcriptdata/.

Candida albicans↗
PubMed2000

Variation of relative transit dose profiles with patient-detector distance.

BACKGROUND AND PURPOSE: In view of using portal images for exit dosimetry, an experimental study is performed of relative transit dose profiles at different distances behind patients (and phantoms) and of their relation to the exit dose profile. MATERIALS AND METHODS: Irregular, homogeneous polystyrene phantoms with a variable thickness to simulate head and neck (H&N) treatments (6-MV photon beam) are investigated by ionization chamber measurements performed close to the exit surface and at various distances behind the phantom (10, 20 and 30 cm). Similar measurements are performed for a rectangular phantom with large inhomogeneities (A1 and air). For one irregular homogeneous phantom and an irregular phantom containing an A1 inhomogeneity, ionization chamber measurements are performed at the exit surface, and a portal film image is taken at 30 cm behind the phantom. Portal films of a patient treated for a head and neck malignancy are evaluated for different air gaps behind the patient. RESULTS: For the irregular phantoms, deviations up to 15% and more are observed between the exit dose profile (along the shaped surface of the phantom) and the transit profile close to the phantom (perpendicular to the beam axis). There is, however, a good agreement--within 3%--between the exit profile and the transit profile at 30 cm. For the rectangular, inhomogeneous phantom, the deviation between the exit profile and the transit dose profile at 30 cm does not exceed 5%; transit dose profiles overestimate the exit dose for the air cavity and underestimate the dose for the A1 inhomogeneity. Measurements on portal films of a H&N patient for different air gaps confirm the order of magnitude of the difference observed between transit dose profiles close to the patient and transit dose profiles at some distance behind the patient. CONCLUSIONS: For 6-MV photon beam treatments with significant thickness variations (H&N), large variations (> 10%) are observed in transit dose profiles as a function of the air gap between the patient and the portal film. For this energy, a good agreement is found between the exit profile and the transit profile at about 30 cm behind the patient.

Head and Neck Neoplasms↗
PubMed2006

Potential differences in breast cancer risk factors based on CYP1A1 MspI and African-American-specific genotypes.

OBJECTIVES: Recent studies show that an Mspl polymorphism in the 3'-noncoding region of the CYP1A1 gene is associated with breast cancer in African-American women but not in Caucasian women. In addition, an African-American-specific (AAS) polymorphism is located in intron 7 of this gene. We hypothesized that the AAS polymorphism may partially account for this race-specific association and that different environmental risk factor profiles are a function of genotype status. We studied both CYP1A1 polymorphisms to determine if African-American women with these variants have breast cancer risk factor profiles that are different from those of other African-American women. METHODS: A case-control analysis was conducted. Cases were 304 African-American patients pathologically diagnosed with breast cancer from 1995 to 1998 who lived in three Tennessee counties. Controls were 305 African-American women without breast cancer, selected through random-digit dialing and frequency matched to cases by age and county. Information on risk factors was collected through telephone interviews. Tumor tissue samples were collected for CYP1A1 genotyping. There were 215 and 188 cases with the Mspl and AAS polymorphisms measured respectively. RESULTS: Our study results suggest that some risk factors for breast cancer are dependent upon CYP1A1 genotype. Specifically, low intakes of folate, methionine, vitamin C, and vitamin E appear to increase the risk of breast cancer in individuals with the AAS variant: the odds ratio (OR) estimates and 95% confidence intervals were 2.10 and 0.99-4.44 for folate, 1.96 and 0.91-4.23 for methionine, 2.13 and 1.00-4.53 for vitamin C, and 2.43 and 1.12-5.25 for vitamin E. Such associations are stronger for tumors with both AAS and MspI polymorphisms: the OR estimates increased to >6.00 for all these variables except for vitamin C. CONCLUSIONS: This study found that methyl-deficient diets and antioxidant vitamins may be related to the risk of breast cancer as a function of the Mspl and AAS genotpyes. Our results are preliminary because of a small number of cases with polymorphisms at both sites, but they indicate the need for large-scale epidemiologic studies of both African-American and Caucasian women that include genotype information from controls with more detailed information on risk factors.

Adult↗
PubMed1992

Effect of position on the mechanical interaction between the rib cage and abdomen in preterm infants.

To determine the influence of body position on chest wall and pulmonary function, we studied the ventilatory, pulmonary mechanics, and thoracoabdominal motion profiles in 20 preterm infants recovering from respiratory disease who were positioned in both the supine and prone position. Thoracoabdominal motion was assessed from measurements of relative rib cage and abdominal movement and the calculated phase angle (an index of thoracoabdominal synchrony) of the rib and abdomen Lissajous figures. The ventilatory and pulmonary function profiles were assessed from simultaneous measurements of transpulmonary pressure, airflow, and tidal volume. The infants were studied in quiet sleep, and the order of positioning was randomized across patients. The results demonstrated no significant difference in ventilatory and pulmonary function measurements as a function of position. In contrast, there was a significant reduction (-49%) in the phase angle of the Lissajous figures and an increase (+66%) in rib cage motion in prone compared with the supine position. In addition, the degree of improvement in phase angle in the prone position was correlated to the severity of asynchrony in the supine position. We speculate that the improvement in thoracoabdominal synchrony in the prone position is related to alterations of chest wall mechanics and respiratory muscle tone mediated by a posturally related shift in the area of apposition of the diaphragm to the anterior inner rib cage wall and increase in passive tension of the muscles of the rib cage. This study suggests that the mechanical advantage associated with prone positioning may confer a useful alternative breathing pattern to the preterm infant in whom elevated respiratory work loads and respiratory musculoskeletal immaturity may predispose to respiratory failure.

Abdominal Muscles↗
PubMed2006

Changes in quality of life in first year after radical prostatectomy by retropubic, laparoscopic, and perineal approach: Multi-institutional longitudinal study in Japan.

OBJECTIVES: To investigate the health-related quality of life of patients who underwent radical prostatectomy performed using retropubic, laparoscopic, and perineal approaches. METHODS: A total of 218 men who underwent retropubic prostatectomy, 65 who underwent laparoscopic prostatectomy, and 66 who underwent perineal prostatectomy were enrolled in our survey. A baseline interview was conducted before treatment. Follow-up interviews were conducted in person at scheduled study visits 1, 3, 6, and 12 months after surgery. We measured two validated questionnaires that assessed the general and disease-specific health-related quality of life. RESULTS: The retropubic group reported substantial deterioration in physical limitations, emotional limitations, social function, and bodily pain at 1 month. The perineal group reported less bodily pain just after surgery than the retropubic and laparoscopic groups. After 6 months, however, no significant differences were found among the three groups. Postoperative urinary function remained substantially lower than the baseline level in every treatment group. Each approach with a nerve-sparing procedure showed a similar recovery profile of urinary function postoperatively. The perineal group reported no significant difference in bowel function compared with the other two groups. All of the groups continued to have decrements in sexual function. CONCLUSIONS: The results of this study have demonstrated that retropubic, laparoscopic, and perineal prostatectomy have differences in the recovery of general and disease-specific quality of life in the early postoperative period. When performed by an experienced surgeon, the retropubic, laparoscopic, and perineal approaches appear to be equivalent in terms of health-related quality of life.

Aged↗
PubMed2005

Integrating gene and protein expression data: pattern analysis and profile mining.

Proteomics and functional genomics are emerging new research fields devoted to the study of the entire collection of proteins and mRNA transcripts (collectively known as gene products) that define a biological system. DNA microarrays are now a popular platform for measuring changes in messenger RNA transcript levels on a genome-wide scale, while gel-free shotgun profiling methods based on tandem mass spectrometry are increasingly being used to determine the identity, modification states, and relative abundance of large numbers of proteins. By defining the behavior of entire biological pathways and networks under various physiological states, these studies aim to extend traditional reductionist molecular genetic approaches regarding the biological roles of the vast array of uncharacterized gene products. A key goal is to determine how the information encoded by the myriad of expressed gene products is integrated at the molecular, cellular, and even whole organism level to create the dynamic biochemical processes and complex physiological controls that sustain life. While comparison of the complementary information contained in proteomic and mRNA data sets poses considerable analytical challenges, these efforts should provide added insight into the fundamental mechanisms underlying physiology, development, and the emergence of disease. Here, we outline several analytical approaches, methods, and tools that have proven to be helpful in the face of this important challenge.

Algorithms↗
PubMedDate not supplied

[Significance of exact lateral roentgen documentation in Meyerding's grading of spondylolistheses].

The treatment of spondylolisthesis-in particular the indication of operation-is based on clinical symptoms as well as radiological criteria. For radiological techniques, the lateral profile, especially in function tests, is of importance. As a basic requirement the grade of Meyerding should be evaluated on x-ray in the exact lateral profile. We have observed, that even a slight rotation of the spine leads to misjudging of the real degree of vertebral dislocation. In 30 patients with spondylolisthesis of the lumbar spine the x-rays, made in exact lateral position, were compared with x-rays in 10 degrees rotation of the spine. On the average we measured an increase of vertebral dislocation of 3-4 mm. The increase was independent of the grade of Meyerding or the level of spondylolisthesis. The results could be verified by a spine of a human corpse.

Adolescent↗
PubMed1993

What's the difference between men and women? Evidence from facial measurement.

Human subjects are able to identify the sex of faces with very high accuracy. Using photographs of adults in which hair was concealed by a swimming cap, subjects performed with 96% accuracy. Previous work has identified a number of dimensions on which the faces of men and women differ. An attempt to combine these dimensions into a single function to classify male and female faces reliably is described. Photographs were taken of 91 male and 88 female faces in full face and profile. These were measured in several ways: (i) simple distances between key points in the pictures; (ii) ratios and angles formed between key points in the pictures; (iii) three-dimensional (3-D) distances derived by combination of full-face and profile photographs. Discriminant function analysis showed that the best discriminators were derived from simple distance measurements in the full face (85% accuracy with 12 variables) and 3-D distances (85% accuracy with 6 variables). Combining measures taken from the picture plane with those derived in 3-D produced a discriminator approaching human performance (94% accuracy with 16 variables). Performance of the discriminant function was compared with that of human perceivers and found to be correlated, but far from perfectly. The difficulty of deriving a reliable function to distinguish between the sexes is discussed with reference to the development of automatic face-processing programs in machine vision. It is argued that such systems will need to incorporate an understanding of the stimuli if they are to be effective.

Adolescent↗
PubMed2001

A calcineurin antagonist-free induction strategy for immunosuppression in cadaveric kidney transplant recipients at risk for delayed graft function.

BACKGROUND: Avoidance of calcineurin antagonists for a prolonged period de novo after cadaver donor renal transplantation may facilitate recovery from delayed graft function. The present study examined the benefit of prolonging the calcineurin antagonist-free interval by administering sirolimus (SRL) in combination with chimeric (c-) anti-interleukin-2 receptor (IL-2R) monoclonal antibodies (mAb). METHODS: Three contemporaneous but nonrandomized cohorts were compared for acute rejection episodes, patient and graft survival rates, renal function, and adverse reaction profiles for 12 months. Patients with delayed graft function were treated with either SRL/c-IL-2R mAb/prednisone (Pred) with inception of cyclosporine (CsA) once the serum creatinine value was < or =2.5 mg/dl (n=43; group 1) or anti-lymphocyte preparations/Pred/delayed CsA for 7 to 14 days (n=18; group 3). A third cohort displayed immediate function and was treated de novo with CsA/c-IL-2R mAb/Pred (n=21; group 2). RESULTS: The incidence of acute rejection episodes was significantly lower among group 1 (16%) compared with groups 2 (52%, P=0.004) or 3 (39%, P=0.05). Among the seven rejection episodes in group 1, six of seven occurred among African-American or retransplant recipients, and a separate cluster of six of seven occurred among patients who displayed SRL trough concentrations < or =9 ng/ml. Furthermore, additional antilymphocyte antibody treatment was required to reverse either steroid-resistant or Banff grades II or III acute rejection episodes among 14%, 55% (P=0.08), and 71% (P=0.03) of patients in each group, respectively. Patient and graft survival rates, as well as mean serum creatinine values, were similar at 12 months among the three groups. However, group 1 patients displayed higher serum cholesterol and triglyceride values, as well as lower hemoglobin, platelet, and leukocyte values compared with the other two groups. CONCLUSION: This pilot study suggests that a SRL/c-IL-2R mAb/Pred induction regimen provides excellent acute rejection prophylaxis.

Antibodies, Monoclonal↗