Biomedical subjects
Publications and source records attributed to M Augustin.
Subcutaneous emphysema is characterized by the presence of air or other gases in the subcutis after a spontaenous or traumatic interruption in a air-carrying structure. We describe a patient who developed unilateral facial swelling after dental treatment. Considering the history, differential diagnostic possibilities and the physical examination, we diagnosed cervicofacial emphysema.
BACKGROUND: There is little information concerning the costs of psoriasis and patients' quality of life (QoL) in Germany. OBJECTIVE: To obtain data on the annual costs and QoL(to follow in a further publication) of patients with moderate to severe plaque psoriasis. METHODS: Between October 2003 and February 2004, six office-based dermatologists and eight dermatology outpatient departments retrospectively documented cost-of-illness data from a societal cost perspective in 184 patients over a 12-month period. Patients were stratified into three subgroups according to their treatment scheme. RESULTS: Mean total costs amounted to euro 6,709 per patient and year. The mean PASI score was 18.2 and PBSA 28.9%. Annual costs were highest with euro 8,831 in high-need patients. They also showed the highest PASI score (22.2). CONCLUSION: Moderate to severe plaque psoriasis is associated with tremendous costs, particularly in patients not adequately controlled by conventional therapies, while the outcomes of patients were unsatisfactory.
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BACKGROUND: The patient's opinion has received only little consideration in current health-political discussions so far. This study examines the question of agreement between physicians and patients regarding their expectations of therapy and evaluation of its' usefulness. PATIENTS AND METHODS: 133 patients with psoriasis vulgaris (n=73) or atopic dermatitis (n=60) as well as medical personnel (n= 119) were assessed concerning the priority of therapy goals by means of a specially-designed questionnaire. RESULTS: There was overall agreement on the definition of therapy goals in the improvement of clinical symptoms and the importance of side effects between medical personnel and patients. Psychological distress and social improvements were clearly overrated by the medical staff, whereas the need for less therapeutic expenditure was clearly underestimated. CONCLUSIONS: The conventional evaluation of drugs and therapies covers the effectiveness and the side effects, topics about which patients and physicians are in general accordance. As far as further evaluation criteria are concerned, discussions should reflect the patient's opinion's, since it cannot be assumed that their perspective is adequately represented by physicians.
Mice with targeted genetic alterations are the most effective tools for deciphering organismal gene function. We generated an ENU-based parallel C3HeB/FeJ sperm and DNA archive characterized by a high probability to identify allelic variants of target genes as well as high efficiencies in allele retrieval and model revitalization. Our archive size of over 17,000 samples contains approximately 340,000 independent alleles (20 functional mutations per individual sample). Based on an estimated number of approximately 30,000 mouse genes, the parallel sperm/DNA archive should permit the identification and recovery of ten or more alleles per average target gene which translates to a calculated 99% success rate in the discovery of five allelic variants for any given average gene. The low rate of unrelated ENU-induced passenger mutations has no practical impact on the analysis of the allele-specific phenotype at the G3 generation because of dilution and free segregation of such unrelated passenger mutations. To date 39 mouse models representing 33 different genes have been recovered from our archive using in vitro fertilization techniques. The generation time for a murine model heterozygous for a mutation in a gene of interest is less than 2 months, i.e., three to four times faster compared with current embryonic stem-cell-based technologies. We conclude that ENU-based targeted mutagenesis is a powerful tool for the fast and high-throughput production of murine gene-specific models for biomedical research.
BACKGROUND: Evaluation of the effects of cultivated, subconfluent, autologous keratinocytes in fibrin sealant (BioSeed-S) on the healing of therapy-refractive chronic wounds. PATIENTS AND METHODS: Open observational study in 60 patients with chronic leg ulcers and impaired wound healing of various origins. After whole-skin excision and cultivation of the autologous keratinocytes, the suspended cells were applied to the preconditioned wound in fibrin sealant. Wound epithelization and wound size were recorded at defined times. RESULTS: Fifty-two of the 60 participating patients could be evaluated. After 6 weeks, 29 ulcers (55.8%) were healed. The mean epithelization increased between the 8th and 42nd postoperative day from 23% to 62.5%. In 50.0% of the patients, global assessment of the wound showed a high degree of epithelization or healing after 42 days. In 32.6% of treated patients, improvement was observed, while no healing tendency was to be found in 17.4%. CONCLUSION: The present observational study indicates that the transplantation of autologous keratinocytes suspended in fibrin sealant could be of advantage in the treatment of refractive leg ulcers.
BACKGROUND: It is known from clinical practice that lymphatic diseases can be associated with reductions of quality of life (QoL). Due to the lack of validated methods, only few studies however have systematically investigated the QoL in lymphedema. The aim of the study was 1) to develop a standardized QoL questionnaire specific for lymphedema and 2) to assess the QoL in these patients. PATIENTS AND METHODS: We developed and tested the FLQA-l, a novel QoL questionnaire developed specific for use in lymphedema on the basis of the previously validated FLQA vein questionnaire. The questionnaire consists of 92 items that refer to the following scales: Physical status, everyday life, social life, emotional well-being, treatment, satisfaction and profession/household. 392 patients with primary (n = 246) and secondary (n = 146) lymphedema were included in the validation study. RESULTS: The FLQA-l showed good internal consistency; Cronbach's alpha was higher than 0.75 in all scales. There were no floor and ceiling effects and satisfactory item selectivity. The test-retest reliability, sensitivity to change and convergent validity with other psychometric instruments were satisfactory. Clinically, patients with lymphedema showed markedly impaired QoL in all fields, compared to persons with early stage venous insufficiency, and comparable reductions of QoL, compared to patients with venous leg ulcer. CONCLUSION: These data indicate that the FLQA-l is a reliable and valid questionnaire for the assessment of QoL in lymphedema. Since the QoL is impaired in many patients with lymphedema, QoL evaluation may be helpful for clinical diagnostics as well as for outcome measurement of specific edema therapy.
OBJECTIVE: A randomised clinical trial (n = 42) compared the effectiveness of two approaches to debriding chronic leg ulcers: TenderWet 24, which is designed to support the autolytic degradation process, and Iruxol N (Santyl), an enzymatic treatment claimed to enhance the degradation process. METHOD: Patients were randomly assigned to one of the two treatment groups for three weeks. Wounds were evaluated weekly for the amount of eschar/slough, the area of healthy granulation and the re-epithelialised area. RESULTS: During days 1-14 slough within the groups was reduced by almost 19% for TenderWet 24 and by 9% for Iruxol N, followed by an increase of 26% and 10% respectively in granulation tissue. These effects were less accentuated during days 7-21. There was a further 11% improvement in tissue debridement for the TenderWet 24 group and a relapse (+9.1%) in the Iruxol N group. CONCLUSION: Although TenderWet 24 appeared to be more efficient in a few cases, the general efficacy of the two products appeared to be almost the same as no statistically significant superiority of either product was found.
BACKGROUND AND OBJECTIVE: With the advent of the DRG system, German hospitals are being forced to improve cost transparency and to uncover inefficient structures. METHODS: Diagnosis-based costs were calculated in the Department of Dermatology in the University Hospital of Freiburg for ten samples, each containing 20 cases. By using in-patient files, cost and productivity information for the fiscal year 2000 was attributed to each single case in a bottom-up-approach. The resulting total costs per case were contrasted to their remuneration under the DRG system. RESULTS: Average case costs were determined between EUR 1,339.83 and EUR 5,714.73. With 19.3% to 28.4% of total costs, nursing costs were the biggest single cost factor. Prolonging the length of stay incurred average extra costs of EUR 144.26 to EUR 199.98 per case and day. The correlation of case costs and their corresponding DRG cost weights was modest with r=0,48. There was considerable cost variance within individual DRGs. CONCLUSIONS: The diagnosis-related cost calculation reveals striking cost differences relating to specific diagnoses. This method is more suitable for cost calculations in the hospital than more general approaches.
Reduced Coat 2 (Rco2) is an ENU-induced mutation affecting hair follicle morphogenesis by an abnormal and protracted catagen. We describe chromosomal mapping and molecular identification of the autosomal dominant Rco2 mutation. The Rco2 critical region on mouse chromosome 11 encompasses the alopecia loci, Bareskin (Bsk), Rex-denuded (Re(den)), Recombination induced mutation 3 (Rim3), and Defolliculated (Dfl). Recently, the gasdermin (Gsdm) gene was described as predominantly expressed in skin and gastric tissues. We provide evidence for a murine-specific gene cluster consisting of Gsdm and two closely related genes which we designate as Gsdm2 and Gsdm3. We show that Gsdm3 reflects a mutation hotspot and that Gsdm3 mutations cause alopecia in Rco2, Re(den), and Bsk mice. We infer a role of Gsdm3 during the catagen to telogen transition at the end of hair follicle morphogenesis and the formation of hair follicle-associated sebaceous glands.
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Reduced coat 3 (Rco3) is a new spontaneous autosomal recessive mutation with defects in hair structure and progressive alopecia. Here we describe chromosomal mapping and molecular identification of the Rco3 mutation. The murine Rco3 locus maps to a 2-Mb interval on chromosome 15 encompassing the keratin type II gene cluster. Recently, mK6irs1 was described as a type II keratin expressed in Henle's and Huxley's layer of the murine inner root sheath. Genomic sequencing revealed a 10-bp deletion in exon 1 of mK6irs1 resulting in a frameshift after 58 amino acid residues and, therefore, the absence of 422 carboxy-terminal amino acid residues containing the complete alpha-helical rod domain. Henle's and Huxley's layers show no immunoreactivity with mK6irs1-specific antibodies and the absence of intermediate filament formation in electron microscopic images. These results indicate that the expression of functional mK6irs1 is indispensable for intermediate filament formation in the inner root sheath and highlights the importance of the keratinization of the inner root sheath in the normal formation of the hair shaft.
Diffusion-weighted single-shot EPI (sshEPI) is one of the most important tools for the diagnostic assessment of stroke patients, but it suffers from well known artifacts. Therefore, sshEPI was combined with SENSitivity Encoding (SENSE) to further increase EPI's potential for stroke imaging. Eight healthy volunteers and a consecutive series of patients (N = 8) with suspected stroke were examined with diffusion-weighted SENSE-sshEPI using different reduction factors (1.0 < or = R < or = 3.0). Additionally, a high-resolution diffusion-weighted SENSE-sshEPI scan was included. All examinations were diagnostic and of better quality than conventional sshEPI. No ghostings or aliasing artifacts were discernible, and EPI-related image distortions were markedly diminished. Chemical shift artifacts and eddy current-induced image warping were still present, although to a markedly smaller extent. Measured direction-dependent diffusion-coefficients and isotropic diffusion values were comparable to previous findings but showed less fluctuation. We have demonstrated the technical feasibility and clinical applicability of diffusion-weighted SENSE-sshEPI in patients with subacute stroke. Because of the faster k-space traversal, this novel technique is able to reduce typical EPI artifacts and increase spatial resolution while simultaneously remaining insensitive to bulk motion.
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The expression of a transgene NI-ROSA LacZ (LacZtg) trapped into the genes for two presumably untranslated, ubiquitously expressed RNAs, was studied in preimplantation mouse embryos with respect to penetrance (fraction of expressing embryos) and to localisation of beta-galactosidase activity. With maternal origin in NMRI mice beta-galactosidase was first detected within one dot in the cytoplasm of zygotes at 30 h post-hCG. The staining pattern progressed to small clusters and to dense, homogeneous staining of the entire cytoplasm during further development. Within the NMRI background, penetrance in utero was delayed by at least 6 h when the transgene was of paternal as compared with maternal origin. Paternal transgene expression increased marginally during culture to 50 h after explantation of embryos at 30-48 h post-hCG and remained low or decreased in the '2-cell block'. Expression of a paternal transgene in preimplantation embryos developing in utero was further delayed in the maternal MF1 as compared with the NMRI background. In contrast to NMRI x NMRI embryos with paternally derived transgene, expression increased with time during the 2-cell block in MF1 x NMRI embryos. Thus, in the earliest phase of mammalian development expression of this LacZtg is influenced by parental origin, maternal genetic background and environment. The spatial distribution of the gene product is developmentally controlled.
Tumour patients are subject to different degrees of psychosocial distress depending on the course of disease, personality variables and amount of social support available. Often patients do not spontaneously talk about their distress and attending physicians fail to detect it. Therefore, it is important that the presence of distress is ascertained by specific screening instruments so that appropriate supportive measures can be instituted. The Hornheide Questionnaire (HQ) employed for investigating the need for psychosocial support in the case of patients with skin tumours and with tumours in the head and neck region represents such a specific screening instrument. The present study investigates the validity of the HQ on the basis of two representative samples from two different University Clinics for treatment and follow-ups of melanoma patients. With the help of the HQ, 215 patients at the Dermatology Out-patient Unit of the University of Innsbruck and 223 patients at the University of Freiburg were investigated with regard to their subjective experience of distress. The external constructive validity criteria were established on the basis of the Freiburg Questionnaire of Disease-Coping, the questionnaire of social support and Beck's Depression Inventory. There were significant differences between individuals in the severity of distress in different age groups and in patients in different tumour stages. The internal consistency of the HQ and its subscales proved to be satisfactory demarcation from other psychosocial dimensions and an adequate correlation with similar dimensions (depression, depressive illness coping, social support, compliance). The HQ appears to be an economical and valid screening instrument for detecting the need for psychosocial support in melanoma patients in the out-patient follow-up stage.
BACKGROUND: Variability of symptoms and signs make the diagnosis of children's food allergy (FA) difficult. In addition, mechanisms and antigens involved vary with age. In young infants, cow's milk protein allergy is associated with an increase of cytotoxic intraepithelial lymphocytes (IELs) expressing T-cell-restricted intracellular antigen (TIA1). In the current study, the significance of TIA1 in FA in older children of mainly preschool and school age was analyzed and the findings correlated the with a detailed clinical, endoscopic, and histopathologic analysis. METHODS: The subjects of this study were 66 children (mean age, 7.9 years; range, 1-15), including 27 with untreated and 15 with treated FA, and 24 control subjects. The morphology of duodenal and antral biopsy specimens was evaluated, and the proportion of TIA1-positive IELs was counted from immunostained sections. Quantification of mast cells with immunostaining for mast cell tryptase (MCT) was completed, with the estimation of diffuse extracellular staining considered to indicate degranulation. RESULTS: Patients with untreated FA showed an increase in the total number of TIA1-positive cells and IELs and of the TIA1/IEL ratio. The number of mast cells in duodenal mucosa was decreased in children with FA, but no association with degranulation was observed. Endoscopic abnormalities were common in FA, but conventional histopathology showed no informative differences. CONCLUSIONS: The significant increase of TIA1-positive IELs in duodenal tissue specimens is associated with FA. The cytotoxicity of T lymphocytes seems to play a role in the pathogenesis of gastrointestinal FA. Activation and mechanisms of action should be studied further.
BACKGROUND: Empirical investigations examining the psychosocial distress and need for care of dermatology patients are rare. Little is known about the use of psychotherapeutic interventions in routine care. OBJECTIVE: To evaluate the psychosocial distress of dermatological inpatients, the need for psychotherapeutic interventions and their realization in the framework of a psychosomatic liaison service. METHODS: 86 patients from one unit at the University Dermatology Clinic in Freiburg underwent psychodiagnostic interviews and completed self-rating instruments, elucidating mental disorders, psychosocial distress, coping methods, quality of life, treatment motivation and psychotherapeutic interventions. RESULTS: Using ICD-10 criteria, mental and behavioral disorders were diagnosed in 46%; most frequent were mood and anxiety disorders. Professional assessment indicated a need for psychotherapeutic treatment in 51%, while 28% of the patients wished for psychotherapy; actual intervention occurred in 38%. CONCLUSIONS: The need for psychotherapeutic treatment can only be handled within the framework of a liaison service in close collaboration with care givers.