A comprehensive leukemia database: integration of cytogenetics, molecular genetics and microarray data with clinical information, cytomorphology and immunophenotyping.
Explore the source record for details and available documents.
Cytogenetics↗
Biomedical subjects
M Dugas
Publications and source records attributed to M Dugas.
TH2 cytokine-associated transcription factors in atopic and nonatopic asthma: evidence for differential signal transducer and activator of transcription 6 expression.
BACKGROUND: The expression of IL-4 and IL-5 is increased in patients with atopic asthma compared with control subjects and correlates with indices of pulmonary function. In nonatopic asthma the expression of IL-4, unlike IL-5, fails to correlate with pulmonary function, and compared with their atopic counterparts, these patients have fewer cells expressing IL-4 receptor (IL-4R). As such, a deficiency in the IL-4 signaling pathway may be implicated in nonatopic asthma. The transcription factors GATA-3 and cMAF mediate IL-4 and IL-5 synthesis, whereas signal transducer and activator of transcription 6 (STAT-6) is critical for IL-4R signaling. OBJECTIVE: This study examines the expression profile of these transcription factors in asthma, according to atopic status. METHODS: With immunocytochemistry, the expression of GATA-3, cMAF, and STAT-6 protein was determined in sections of bronchial biopsy specimens from patients with atopic asthma (n = 7), patients with nonatopic asthma (n = 8), and control subjects (n = 8). RESULTS: Higher numbers of cells expressing GATA-3 and cMAF were observed in patients with atopic and those with nonatopic asthma than in control subjects and patients with tuberculosis (P <.001). There were also more STAT-6-immunoreactive cells in patients with atopic and those with nonatopic asthma than in control subjects (P <.0001, P <.05). Notably, however, fewer cells expressing STAT-6 protein were observed in nonatopic versus atopic asthma (P <.0001). CONCLUSIONS: These results demonstrate the upregulation of GATA-3 and cMAF in both variants of asthma and indicate that reduced IL-4R signaling, because of lower STAT-6 expression, may be a feature of nonatopic asthma.
Adult↗
XML-based visual data mining in medicine.
Medical databases in general are characterized by a high degree of complexity in terms of quantity of items, number of parameter values and data types (free text, categorical, numerical and other). Substantial domain knowledge is required for adequate formalization of medical entities. In this context we developed medical database plot (mdplot), a data mining tool to visualize both structure and quality of data in medical databases to identify items suitable for evaluation. Data models are provided in XML format. Missing data is identified to enable targeted efforts to improve data quality prior to analysis. Database items are classified as 1:1- related to the patient (i.e. variables are collected once per patient) and 1:n related. mdplot provides a list of all classes contained in a database, the number of records each and a condensed bar chart for semi-quantitative description of completeness according to four types of items: categorical, numerical, text and other. All items in a category are grouped from left to right, the height of each bar represents the proportion of non-missing values with respect to the total number of records in the class; thus the amount of content in a specific class is visualized. By selection of a specific class, a detailed description of it is provided including mean completeness in each item category as well as number of values per item. The new methodology was applied to a cardiological research database consisting of 619 items on 88 patients.
Atrial Fibrillation↗
[Emergency medicine online course--integrating into curriculum of computer-based training].
Emergency medicine is characterized by rapid decision making to help patients in life-threatening situations. Teaching these skills requires a high level of interaction between medical students and the lecturer. We designed, implemented, and evaluated a generic computer-based training (CBT) system to provide a more active way of learning emergency medicine. The content of the training program is adapted to the knowledge of third year medical students and is focused on basic skills and real-world problems. The teacher presents the case with authentic video sequences and slides. The cases are classified into four groups: heart (e.g., myocardial infarction), respiration (e.g., asthma bronchiale), trauma (e.g., car accident), and loss of consciousness (e.g., coma). Within a realistic time frame, the students have to answer free text and multiple choice questions on a work-station. All answers given by the students are processed anonymously by the CBT system via a central server and displayed on a large video screen, thus enabling a detailed discussion without intimidation of individual students. This interactive technique allows for immediate feedback from the lecturer based on the specific knowledge of his group and his own experience. The IT concept, which is scalable to many subjects, is based on state of the art internet technology and therefore suitable for teleteaching. A major design objective for the program was a self-explaining and robust user interface. The system has been in routine use since 1998. We designed an evaluation form consisting of 21 items focused on subjective rating of learning success, acceptance of CBT, and technical feasibility. We analyzed forms from 138 students and found high scores for acceptance and learning success (median 5 on a 6-point scale). user problems with the program were denied (median 1 on a 6-point scale). Computer-based training with Internet technology can provide a successful method for interactive teaching of emergency medicine and is well accepted by students.
Computer Graphics↗
MedIDok--an Intranet tool for XML-based data modelling in medicine.
Integration of administrative, clinical and scientific documentation in medicine is a challenge because of the complexity and dynamics of the underlying data models. At least 50 items per procedure are necessary for clinically adequate documents. Extensive fine tuning is required to achieve acceptance by physicians, thus rapid prototyping is important. The results of this modelling process should be provided independently of specific implementations for reasons of portability. To address these needs we developed MedIDok (Medical Intranet-based Documentation), a set of intranet tools to generate and maintain specific documentation systems (generated programs, no manual coding) and the associated data models. The data structures are provided in XML format and therefore can be reused with other software architectures. The feasibility of non-redundant Intranet systems for both clinical and scientific information management is assessed covering the following domains at a major university hospital: hip ultrasound, endoscopic cholecystectomy, ESWL (extracorporeal shock wave lithotripsy) and implantable cardiac defibrillators. With the programs generated by MedIDok so far more than 10,000 patient contacts have been documented.
Computer Communication Networks↗
Abnormal psychosocial situations among inpatients from a child and adolescent psychiatric department in a teaching hospital in France.
In order to examine the relationships between Associated Abnormal PsychoSocial Situations and psychiatric disorders in children and adolescents, an exploratory analysis using Axis V of the ICD-10 was performed on 1050 child and adolescent psychiatric inpatients. A logistic regression analysis was completed with respect to four groups of DSM-III-R diagnostic categories (Emotional Disorders, Disruptive Behavior Disorders, Specific Developmental Disorders, Non Specific Developmental Disorders). AAPSS were more frequently found in children and adolescents with Emotional Disorders or Disruptive Behavior Disorders than in those with Developmental Disorders but there was no diagnostic specificity in the distribution of AAPSS.
Adolescent↗
An intranet-based system for quality assurance in surgery.
Quality assurance in surgery relies on precise medical records about surgical procedures and outcomes. Data quality is crucial for statistical evaluation; missing values cannot be avoided but must be minimized. The quality assurance system must be accessible from many locations within the clinic; given the complex and heterogeneous computing infrastructure this is a technological challenge. Intranet-technology--the application of internet-tools in local networks--can help to solve the technical problems. We designed, implemented and evaluated a generic Intranet-based quality assurance system in surgery. The basic concept is multi-purpose data entry with predefined textblocks, i.e. the same data is used for clinical reports as well as scientific evaluations. Our first instance were reports on laparoscopic cholecystectomies consisting of 41 Items and 132 textelements. Because of the good clinical acceptance of the system it will be expanded to other surgical procedures.
Cholecystectomy, Laparoscopic↗
Mr Lewis on the Web--how to convert learning resources for intranet technology.
OBJECTIVES: Intranet technology is the application of Internet tools in local networks. Due to the diversification of hardware and the need for international cooperation, cross-platform systems with network access are required for computer-based training (CBT). The latest advances in Web technology make it feasible to have interactive CBT on the Web: Web-based training (WBT). It is possible to convert existing interactive learning programs to Intranet technology. This approach combines the evaluated contents of excellent learning resources with the technical advantages of Web technology. DESIGN: 'Mr Lewis' is a case about pulmonary embolism, developed by Harold Sox, M.D., working with one of the authors, and peer-reviewed at Dartmouth Medical School (DMS), where it is now being used in the third-year clerkship in Internal Medicine as one of several CBT programs assigned to students in the clerkship. RESULTS: The process and the tools necessary to convert an interactive learning program to Intranet technology are described. CONCLUSIONS: International cooperation for CBT development is much more effective with this technique than with conventional platform-dependent stand-alone software. Web-based training can play an important role in the education of medical students and doctors.
Clinical Clerkship↗
Bronchial subepithelial fibrosis correlates with airway responsiveness to methacholine.
OBJECTIVES: To evaluate the relationships between airway subepithelial collagen deposition and epithelial desquamation with airflow obstruction and hyperresponsiveness in different types of asthma and other respiratory conditions such as chronic cough and allergic rhinitis. DESIGN AND PARTICIPANTS: We compared the histopathologic features observed on bronchial biopsy specimens obtained from 80 subjects: 38 with different types of asthma, 19 with chronic cough, 13 with allergic rhinitis, and 10 normal control subjects. Each subject had a questionnaire on respiratory symptoms and medication needs, measurements of expiratory flows and methacholine responsiveness, allergy skin prick tests, and a bronchoscopy with bronchial biopsies. None of the subjects studied used bronchial anti-inflammatory agents. RESULTS: Different degrees of bronchial subepithelial fibrosis were present in asthmatic subjects, the most intense being observed in occupational asthma; a subepithelial deposition of collagen was also found in subjects with allergic rhinitis, although it was less intense than in asthma and irregularly distributed under the basement membrane. On global analysis, we found a significant correlation between individual provocative concentration of methacholine inducing a 20% fall in FEV1 (PC20) and subepithelial fibrosis intensity (rs=-0.70, p<0.001). The degree of epithelial desquamation was correlated with that of subepithelial fibrosis (rs=0.36, p=0.02) in subjects with normal airway responsiveness, but it was not correlated with the PC20 (rs=0.10, p>0.05). Neither the degree of subepithelial fibrosis nor epithelial desquamation was correlated with the FEV1. CONCLUSION: These results suggest that structural airway changes such as subepithelial collagen deposition may be significant determinants or markers of a process that results in airway hyperresponsiveness.
Adult↗
Clinical applications of Intranet-technology.
Several areas of HTML-applications using intranet-technology are presented, which are in routine use in our hospital: CBT for nurses and medical students, drug information, electronic literature retrieval systems and laboratory information systems. The basic concept is an integration of commercial databases and local information. All applications are hardware-independent with the same user-interface and all use client-server-technology. By a central update it is ensured that everybody gets the most recent information. As a result of these efforts synergy has developed. The training of the medical staff is supported which helps to improve the care of the patients.
Computer User Training↗
Intranet and HTML at a major university hospital--experiences from Munich.
Intranet-technology is the application of Internet-Tools in local networks. With this technique electronic information systems for large hospitals can be realized very easily. This technology has been in routine use in 'Klinikum Grosshadern' for more than one year on over 50 wards and more than 200 computers. The following clinical application areas are described: drug information, nursing information, electronic literature retrieval systems, multimedia teaching und laboratory information systems.
Computer Communication Networks↗
Systematic screening for fragile X syndrome in a cohort of 574 mentally retarded children.
In this study, we evaluated the prevalence of the fragile X syndrome in a cohort of 574 mentally retarded children. The only inclusion criterion was the diagnosis of mental retardation according to the DSM-IIIR classification. We used a PCR-based strategy for the diagnosis of fragile X syndrome to facilitate systematic screening. This diagnostic scheme is based on an initial PCR to eliminate most fragile X-negative patients followed by Southern blotting for fragile X syndrome diagnosis. Altogether, 403 boys and 171 girls were tested. The prevalence of this genetic disorder was 1.9% (11/574) in the whole cohort and 2.5% (10/403) in boys. Only one case of fragile X syndrome was detected among the 171 girls tested (0.6%). Clinical examination, especially in the youngest children, was often unremarkable, and the only reason for suspecting fragile X syndrome was the presence of mental retardation. Thus, a systematic screening for the fragile X syndrome in mentally retarded children seems justified because of the importance of a precise diagnosis in genetic counseling.
Adolescent↗
Modifications of erythrocyte membrane fluidity from patients with anorexia nervosa before and after refeeding.
Erythrocyte membrane characteristics were compared in 15 normal women and 15 women with anorexia nervosa; the patients were studied at hospital admission and again after 1 month of refeeding. At admission, physical properties of erythrocyte membranes, studied with electron spin resonance spectrometry, significantly differed between the anorexic patients and the normal volunteers. Fluidity from the hydrophobic part of the erythrocyte membrane, estimated by the correlation frequency, was decreased in the patients. After 1 month of refeeding, fluidity increased. One of the possible mechanisms of the variation of membrane fluidity could be the effect of cholesterol on membrane structure. Increased cholesterol levels in anorexic subjects could reduce fluidity. These alterations in membrane fluidity could explain some of the neurobiological abnormalities observed in anorexia nervosa.
Adolescent↗
Low-dose naltrexone effects on plasma chemistries and clinical symptoms in autism: a double-blind, placebo-controlled study.
The effect of month-long naltrexone (NTX) treatment at a daily oral dose of 0.5 mg/kg/day was contrasted with placebo (PLC) in a double-blind study with conjoint clinical and biochemical evaluations of therapeutic effects. Modest clinical benefits were achieved with both PLC and NTX, with marginally better overall results following NTX, and degree of improvement appeared to be related to plasma chemical profiles. Massively elevated levels of beta-endorphin were observed in all children with assays using C-terminal antibody but not with an N-terminal antibody assay. In addition, 70% of the children exhibited abnormally low levels of adrenocorticotropic hormone, and smaller subsets exhibited elevated norepinephrine (60%), arginine-vasopressin (50%), and serotonin (20%). The best clinical responders exhibited the clearest normalization of the elevated plasma chemistries, especially in C-terminal-beta-endorphin and serotonin. There was some evidence of therapeutic carry-over effects in both clinical and biochemical measures in those children who received NTX before PLC. The results suggest that NTX only benefits a subgroup of autistic children, who may be identified by the presence of certain plasma abnormalities. These results suggest a possible linkage between abnormal plasma chemistries, especially those related to the pro-opiomelanocortin system, and autistic symptoms.
Adolescent↗
A comparative study of ERP correlates of psychometric and Piagetian intelligence measures in normal and hyperactive children.
Verbal and performance scores of the Wechsler Intelligence Scale for Children-Revised (WISC-R 1981) and of a Piagetian battery, the Cognitive Development Scale for Children (EDC 1984), were obtained on 30 normal control and 19 hyperactive 6-8-year-old children. Amplitudes and latencies of a fronto-central P250 and of the parieto-occipital N250, P350 and P500 were measured concurrently in 4 categorization tasks derived from tests of the WISC-R and EDC batteries. Spearman correlations were computed between the intelligence and the ERP factor scores. Results showed that age-related and age-corrected Wechsler's scores were correlated with similar ERP changes (reduced amplitude, decreased latency). With regard to the amplitude changes, each type of intelligence was associated with a specific ERP pattern. The verbal scores were correlated with the P350 and the P500 amplitudes, and the performance scores with the frontal P250 and occipital N250 amplitudes. By contrast, Piagetian development and intelligence scores yielded ERP correlates in the opposite direction: P500 amplitude was negatively correlated with raw EDC scores, but positively with scaled EDC scores. In addition, Piagetian intelligence was not related to the general peak latency decrease with age. In hyperactive children, additional negative correlations were found between P250 amplitude and the subjects' verbal test scores. Correlations with some performance tests that were negative in normal controls, were positive in hyperactive children. In addition, latency-based correlations found in normal controls were lacking in hyperactive children. These findings provide strong evidence that intelligence comprises different components related to different subsets of cognitive processes, as indexed by different ERP waves. They also suggest that the development and intelligence do not always rely on the same changes, and that intelligence forms may not be referred to the same use of the same processes in hyperactive and normal children.
Attention Deficit Disorder with Hyperactivity↗
[Suicidal children and adolescents].
BACKGROUND: Psychiatric evaluation of suicide attempters is necessary in order to define aspects of primary and secondary prevention of suicidal behavior. POPULATION AND METHODS: All the 80 children and adolescents (66 girls and 14 boys) admitted from September 1989 to September 1992 in a pediatric hospital for suicide attempt have been included in this study. Their mean age was 13 yr 10 mo +/- 1.4 and 81% of them were more than 13 years of age. Evaluation included a structured interview and a scale assessing general psychopathology. RESULTS: Risk factors included previous psychiatric history in the patient (47%), family history of psychiatric disturbances in 33% of the mothers, 15% of the fathers and 13% in both. Recent modification in familial composition was seen in one third of cases and chronic difficulties in parent/child interaction in 92%. A relationship between the non impulsivity of the suicidal gesture, psychiatric history and depression diagnosed at the time of evaluation was also recognized. CONCLUSIONS: Knowledge of these risk factors should help to prevent and treat some aspects of suicidal behavior.
Adolescent↗
Is reactive airways dysfunction syndrome a variant of occupational asthma?
BACKGROUND: Reactive airways dysfunction syndrome (RADS) or irritant-induced asthma is a syndrome that leaves subjects with asthma-like symptoms after one or more exposures to a high concentration of an irritant substance. The degree of reversibility of airway obstruction in subjects with RADS is nevertheless unknown, as is the degree of associated lesions at the airway level. METHODS: We compared the acute reversibility of forced expiratory volume in 1 second (FEV1) after inhalation of albuterol (200 micrograms) in 15 subjects with RADS (12 cases caused by chlorine inhalation) with that of 30 subjects with occupational asthma (OA) caused by various agents. They were paired according to baseline airway obstruction (61% and 63% of predicted value in the RADS and OA groups), requirement for medication (bronchodilator only--7 of 15 subjects with RADS and 14 of 30 subjects with OA--as compared with bronchodilator + inhaled steroids in 8 of 15 subjects with RADS and 16 of 30 subjects with OA, respectively), and interval since removal from exposure (means of 30 and 24 months in the RADS and OA groups). In addition, five nonsmokers with RADS who had not received inhaled steroids underwent bronchoscopy with lavage and bronchial biopsies less than 2 years after the exposure. RESULTS: The percentage increase in FEV1 over baseline after inhalation of albuterol was 10% +/- 9% in the RADS group and 19% +/- 16% in the OA group (p = 0.005). Only 2 of 15 subjects (13%) with RADS and 12 of 30 subjects (40%) with OA showed an improvement in FEV1 of 20% or greater after inhalation of albuterol. Bronchoalveolar lavage showed an increased number of cells with a predominance of lymphocytes, and biopsy specimens showed increased basement membrane thickness in the five subjects with RADS who underwent bronchoscopy. CONCLUSION: Subjects with RADS are generally left with less airway reversibility than those with OA. We suggest that this difference is secondary to distinct pathologic changes.
Adult↗
Difference between plasma N- and C-terminally directed beta-endorphin immunoreactivity in infantile autism.
OBJECTIVE: The authors investigated whether there is excessive opioid activity in infantile autism by measuring plasma beta-endorphin in patients with autism compared with patients who had Rett's syndrome and normal comparison subjects. METHODS: Radioimmunoassays for beta-endorphin using C-terminally and N-terminally directed antisera were applied to plasma samples from 67 children who met both DSM-III-R and ICD-10 diagnostic criteria for infantile autism, 22 girls with Rett's syndrome, and 67 normal children matched in age and sex with the children with autism. RESULTS: Median N-terminally directed beta-endorphin immunoreactivity appeared to be slightly lower in subjects with autism (7 pg/ml) and clearly higher in the girls with Rett's syndrome (40 pg/ml) than in the comparison subjects (9 pg/ml). Median C-terminally directed beta-endorphin immunoreactivity was higher in the girls with Rett's syndrome (35 pg/ml) and much higher in patients with autism (70 pg/ml) than in comparison subjects (8 pg/ml). CONCLUSIONS: These findings demonstrate the existence of a wide discrepancy between C- and N-terminally directed beta-endorphin immunoreactivity among children with autism. Despite the fact that the nature of the antigen recognized in the plasma of autistic children by the C-terminally directed anti-beta-endorphin serum remains to be characterized, the difference between C- and N-terminally directed beta-endorphin immunoreactivity might suggest an abnormal processing of the pro-opiomelanocortin gene in infantile autism.
Adolescent↗