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Biomedical subjects

W Salmhofer

Publications and source records attributed to W Salmhofer.

At least 19 recordsLinked to original sources
PubMed2006

Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.

Hereditary sensory and autonomic neuropathy type II (HSAN-II) is caused by recessive mutations in the HSN2 gene assigned to chromosome 12p13.33. The authors report three unrelated HSAN-II families with homozygous or compound heterozygous mutations resulting in the truncation of the HSN2 protein. Genotype-phenotype correlations indicated that HSN2 mutations are associated with an early childhood onset of a predominantly sensory neuropathy, complicated by acromutilations in both upper and lower limbs.

Adult↗
PubMed2006

Two years' experience with Web-based teleconsulting in dermatology.

A non-commercial teledermatology network based on store-and-forward operation was established in April 2002. The aim was to create an easy-to-use platform for teleconsultation services, where physicians could seek diagnostic advice in dermatology from a pool of expert consultants and where they could present and discuss challenging dermatology cases with special emphasis on diagnosis and therapy. An online moderated discussion forum was added in October 2003. During the first two years, 348 health-care professionals from 45 countries registered to use the Website. A total of 783 requests for consultations were answered; 285 requests concerned pigmented skin lesions, 440 requests were from the whole range of clinical dermatology and 58 requests were about non-melanoma skin cancer. Of a total of 133 requests analysed, 80 (60%) were answered within one day, 47 (35%) within one week, five (4%) within two weeks and one (1%) consultation was answered in more than two weeks. Our experience with a discretionary, non-commercial, multilingual Website for open-access teleconsulting in dermatology appears to be successful. The Website represents an example of user-generated content, together with active interaction between users, who can present and discuss cases with remote colleagues.

Dermatology↗
PubMed2006

Feasibility and acceptance of telemedicine for wound care in patients with chronic leg ulcers.

We examined the feasibility and acceptance of teledermatology for wound management of patients with chronic leg ulcers by home-care nurses. Forty-one chronic leg ulcers of different origin in 14 patients were included. After an initial in-person visit in which leg ulcers were assessed and classified, and underlying diseases noted, follow-up visits were done by home-care nurses. Once a week 1-4 digital images of the wound and surrounding skin and relevant clinical information were transmitted via a secure Website to an expert at the wound care centre. The experts provided an assessment of wound status and therapeutic recommendations. In 89% of the 492 teleconsultations, the quality of images was sufficient or excellent and the experts were confident giving therapeutic recommendations. Treatment modalities were changed or adapted in one-third of the consultations. There was a significant decrease in visits to a general physician or the wound care centre. The acceptance of teledermatology was high in patients, home-care nurses and wound experts. Teledermatology offers great potential for chronic wound care and seems to be accepted both by patients and health-care persons.

Austria↗
PubMed2004

Telepathology using immunofluorescence/immunoperoxidase microscopy.

We evaluated low-cost, store-and-forward telepathology interpretation of digital images of skin sections stained immunohistochemically, using immunofluorescence (IF) and immunoperoxidase (IP). The sample comprised 17 patients with skin diseases characterized by cutaneous deposition of immunoglobulins, fibrinogen or complement components. Up to 11 digital IF or IP images (median 3) were transferred via email to centres in Graz, Austria, and Kurume, Japan. Both remote centres had expertise in reading immunohistochemical specimens. Although image files were relatively small (approximately 100 kByte), the IF images were of high quality and they were well suited to static telepathology. There was agreement on the diagnoses made by the local and both remote centres by physicians experienced in IF/IP microscopy in 14 of 17 cases (82%). These results suggest that telepathology evaluation of immunohistochemical specimens may be a useful procedure for the discussion of unusual skin disorders, training purposes and second-opinion consultations on difficult cases from centres of excellence in immunohistochemical diagnosis.

Austria↗
PubMed2003

Penetration of fosfomycin into inflammatory lesions in patients with cellulitis or diabetic foot syndrome.

We investigated the distribution of the broad-spectrum antibiotic fosfomycin in infected soft tissue of patients with uncomplicated cellulitis of the lower extremities or diabetic foot infection using in vivo microdialysis. Our findings suggest that fosfomycin exhibits good and similar penetration into the fluid in the interstitial space in inflamed and noninflamed soft tissue in patients.

Area Under Curve↗
PubMed2001

Bullous pemphigoid sera react specifically with various domains of BP230, most frequently with C-terminal domain, by immunoblot analyses using bacterial recombinant proteins covering the entire molecule.

By immunoblot analyses of normal human epidermal extracts, the 230 kDa bullous pemphigoid antigen (BP230) is recognized by most bullous pemphigoid sera. By polymerase chain reaction using keratinocyte cDNA library as a template, we successfully amplified 3 cDNAs of about 3 kb, which covered whole human BP230 molecule. By inserting the cDNAs into bacterial expression vector pGEX, we prepared 3 different recombinant glutathione-S-transferase-fusion proteins, which roughly presented N-terminal domain, central rod domain and C-terminal domain of BP230. By immunoblotting using these 3 recombinant proteins, we demonstrated that the majority of bullous pemphigoid sera reacted clearly with multiple recombinant proteins of BP230, most frequently with C-terminal domain. We also examined sera of pemphigus vulgaris, pemphigus foliaceus and herpetiform pemphigus that showed BP230-like protein band by immunoblotting of epidermal extracts, as well as paraneoplastic pemphigus, for reactivity with the 3 recombinant proteins. In the study, we found that only very few of these non-bullous pemphigoid sera reacted with some of the recombinant proteins. These results indicate that the BP230 is specifically reacted by bullous pemphigoid sera, and that the immunoblotting using the BP230 recombinant proteins should be a useful tool for the diagnosis of bullous pemphigoid.

Antibodies, Monoclonal↗
PubMed2001

A localized variant of paraneoplastic pemphigus: acantholysis associated with malignant melanoma.

We report a 72-year-old male patient with a nodular malignant melanoma that was associated with focal suprabasal acantholysis (FSA). This phenomenon, which is regarded as an incidental finding by dermatopathologists, may be associated with inflammatory and also neoplastic skin diseases. Haematoxylin and eosin stained sections from an erythematous plaque surrounding the patient's tumour showed FSA, direct immunofluorescence (DIF) and indirect immunofluorescence (IIF) on normal human skin, monkey oesophagus and rat urinary bladder were negative. On electron microscopy few desmosomes could be detected in the basal cell layer of the acantholytic areas and there was a nearly complete loss of these structures in the spinous cell layer. Only remnants of cytoplasmic plaques and keratin filaments could be observed in those areas. In contrast, adherens junctions appeared to be well preserved. An enzyme-linked immunosorbent assay (ELISA) using recombinant fusion proteins as antigens did not show circulating autoantibodies against desmoglein 1 (Dsg1) or desmoglein 3 (Dsg3). In contrast, immunoblotting revealed autoantibodies directed against keratinocyte antigens with a molecular weight of 85 kDa and 250 kDa, the first band corresponding to the molecular weight of comigrating plakoglobin. Immunoprecipitation with patient serum also revealed a 85-kDa band. We conclude that these autoantibodies, probably in conjunction with cofactors produced by the tumour, could play a part in the pathogenesis of this variant of FSA, for which we propose the term 'localized paraneoplastic pemphigus.'

Acantholysis↗
PubMed2001

Paraneoplastic pemphigus sera react strongly with multiple epitopes on the various regions of envoplakin and periplakin, except for the c-terminal homologous domain of periplakin.

Paraneoplastic pemphigus sera react with multiple plakin family proteins, among which only envoplakin and periplakin are constantly detected by immunoblotting using normal human epidermal extracts. Using bacterial expression vectors containing polymerase chain reaction-amplified cDNA, we have prepared variously truncated recombinant glutathione-S-transferase-fusion proteins of envoplakin and periplakin, which presented N-terminal, central and C-terminal domains of each protein, as well as the so-called C-terminal homologous domain of envoplakin and the junctional regions of these domains. By immunoblotting using these 11 recombinant proteins, we demonstrated that most of the 26 paraneoplastic pemphigus sera reacted very strongly with multiple recombinant proteins of envoplakin and periplakin, except for the C-terminal homologous domain of periplakin. We also examined the reactivity with these recombinant proteins of other blistering diseases, including pemphigus vulgaris, pemphigus foliaceus, and bullous pemphigoid, and found that a few nonparaneoplastic pemphigus sera showed a weak reactivity with some of the recombinant proteins. Interestingly, some sera showed relatively strong reactivity with the C-terminal homologous domain of periplakin to which paraneoplastic pemphigus sera reacted less frequently. These results indicate that, although nonparaneoplastic pemphigus sera occasionally show a weak reactivity with envoplakin and periplakin, the pathogenicity and the mechanism of antibody production in these cases may be different from those in paraneoplastic pemphigus.

Autoimmune Diseases↗
PubMed2000

Extended extracorporeal photochemotherapy with extracorporeal administration of 8-methoxypsoralen in systemic sclerosis. An Austrian single-center study.

BACKGROUND: Extracorporeal photochemotherapy (EXP) is an immunomodulating therapy that has been used in a limited number of patients with systemic sclerosis (SSC) with controversial results. The present study was performed to evaluate the efficacy and safety of extended EXP with extracorporeal application of liquid 8-methoxypsoralen (8-MOP) in the treatment of SSC. METHODS: Eleven women with progressive SSC of recent onset were treated for a period of 16-57 months. Skin changes, physical performance, extracutaneous manifestations, and quality of life were evaluated before initiation of EXP and at regular intervals thereafter. RESULTS: From the start to the last set of EXP, we observed an overall improvement and/or stabilization of skin changes and physical performance in 5 of 11 patients (45%). Extracutaneous manifestations deteriorated in 10 of 11 patients (91%) (P<0.05), and quality of life deteriorated in 9 of 11 patients (82%) from a mean score of 10 before, to 17 at the last set of EXP (P<0.05). No major side effects were noted. CONCLUSION: Extended EXP with extracorporeal administration of 8-MOP is a safe and well tolerated treatment modality. However, it provides only (minor) improvement of skin changes of a subset of SSC patients and does not beneficially influence extracutaneous manifestations and quality of life.

Adult↗
PubMed2000

Double-blind, placebo-controlled, randomized, right-left study comparing calcipotriol monotherapy with a combined treatment of calcipotriol and diflucortolone valerate in chronic plaque psoriasis.

A double-blind, randomized clinical study was conducted to compare the efficacy and tolerability of twice-daily topical calcipotriol treatment with a combination treatment of calcipotriol once a day in the morning and diflucortolone valerate in the evening. Sixty-three patients with a clinical diagnosis of chronic plaque psoriasis and comparable psoriatic lesions on both sides of the body were included. After a washout phase of 1 week, psoriatic lesions were treated for 4 weeks with calcipotriol ointment twice daily on one side of the body and a combination of calcipotriol and diflucortolone valerate ointment on the other side. The treatment period was followed by a period of 4 weeks without any treatment. The psoriasis area and severity index (PASI) was used to compare the 2 groups. Furthermore, the overall therapeutic results were assessed independently by the investigators and by the patients. Both treatment regimens showed a significant, nearly identical, reduction in PASI. The mean PASI for calcipotriol alone was 5.7 at baseline, 1.9 after 4 weeks of treatment and 3.8 at the end of the follow-up period. For combination therapy, these values were 5.7, 1.8 and 3.8, respectively. There was a statistically significant advantage in favor of combined calcipotriol and diflucortolone valerate treatment at weeks 1 and 2 (p < 0.05); however, at the end of the treatment phase the difference between the 2 therapies was not significant. Subjective evaluation of efficacy by both the investigators and the patients revealed no difference between the 2 treatments. The frequency of side effects (e.g. irritation) was low in both groups. In conclusion, both therapies were effective for the treatment of chronic plaque-type psoriatic lesions. The combination of calcipotriol and a topical steroid appeared to produce a more rapid clinical response and was shown to be as effective as calcipotriol therapy alone.

Administration, Topical↗
PubMed1998

Omega-3 fatty acid-based lipid infusion in patients with chronic plaque psoriasis: results of a double-blind, randomized, placebo-controlled, multicenter trial.

BACKGROUND: Profound changes in the metabolism of eicosanoids with increased concentrations of free arachidonic acid (AA) and its proinflammatory metabolites have been observed in psoriatic lesions. Free eicosapentaenoic acid (EPA) may compete with liberated AA and result in an antiinflammatory effect. OBJECTIVE: Our purpose was to assess the efficacy and safety of intravenously administered fish-oil-derived lipid emulsion on chronic plaque-type psoriasis. METHODS: A double-blind, randomized, parallel group study was performed in eight European centers. Eighty-three patients hospitalized for chronic plaque-type psoriasis with a severity score of at least 15 according to the Psoriasis Area and Severity Index (PASI) participated in a 14-day trial. They were randomly allocated to receive daily infusions with either a omega-3 fatty acid-based lipid emulsion (Omegavenous; 200 ml/day with 4.2 gm of both EPA and docosahexaenoic acid (DHA); 43 patients) or a conventional omega-6-lipid emulsion (Lipovenous; EPA+DHA < 0.1 gm/100 ml; 40 patients). The groups were well matched with respect to demographic data and psoriasis-specific medical history. Efficacy of therapy was evaluated by changes in PASI, in an overall assessment of psoriasis by the investigator, and a self-assessment by the patient. In one center neutrophil 4- versus 5-series leukotriene (LT) generation and platelet 2- versus 3- thromboxane generation were investigated and plasma-free fatty acids were determined. RESULTS: The total PASI score decreased by 11.2 +/- 9.8 in the omega-3 group and by 7.5 +/- 8.8 in the omega-6 group (p = 0.048). In addition, the omega-3 group was superior to the omega-6 group with respect to change in severity of psoriasis per body area, change in overall erythema, overall scaling and overall infiltration, as well as change in overall assessment by the investigator and self-assessment by the patient. Response (defined as decrease in total PASI of at least 50% between admission and last value) was seen in 16 of 43 patients (37%) receiving the omega-3 emulsion and 9 of 40 patients (23%) receiving omega-6 fatty acid-based lipid emulsion. No serious side effects were observed. Within the first few days of omega-3 lipid administration, but not in the omega-6 supplemented patients, a manifold increase in plasma-free EPA concentration, neutrophil leukotriene B5 and platelet thromboxane B3 generation occurred. CONCLUSION: Intravenous omega-3-fatty acid administration is effective in the treatment of chronic plaque-type psoriasis. This effect may be related to changes in inflammatory eicosanoid generation.

Adult↗
PubMed1998

Interferon-gamma in the treatment of systemic sclerosis: a randomized controlled multicentre trial.

We report the results of a randomized controlled multicentre study on interferon-gamma (IFN-gamma) treatment of systemic sclerosis as determined by skin sclerosis, renal and other organ involvement, global assessment, subjective symptoms and quality of life. Forty-four patients were enrolled into the trial, 27 in the treatment group and 17 in the control group. All patients presented with type I or type II scleroderma. Twenty-nine patients (64%) finished the study. The mean duration of Raynaud's phenomenon and skin sclerosis was 15.3 and 10.8 years, respectively. The skin scores tended to improve in the treatment group (P > 0.05). Mouth aperture increased significantly from 38.5 to 47.7 mm in the treatment group (P < 0.001). Subanalysis of IFN-gamma treated patients with normalized skin sclerosis scores >/=1 showed significant improvement in both skin involvement and subjective symptoms (P < 0.05). Organ involvement improved in eight of 18 treatment patients and in three of 11 control patients. It worsened in three of 18 treatment patients and in four of 11 control patients. One control patient died due to cardiorespiratory failure during the study. No deterioration of renal function occurred during IFN-gamma treatment. There was a significant improvement in quality of life parameters in the control group but not in the treatment group. Plasma levels of neopterin increased significantly during IFN-gamma treatment but not in the control group, whereas N-terminal procollagen III peptide levels did not change in either group. There was a high frequency of mild to moderate influenza-like adverse events during IFN-gamma treatment. Only four of nine drop-out patients, however, experienced symptoms most probably associated with IFN-gamma treatment. We conclude that IFN-gamma therapy has mild beneficial effects on skin sclerosis and disease-associated symptoms in type I and II scleroderma. IFN-gamma treatment was associated with acceptable tolerability and did not induce major renal dysfunction in our patients.

Adolescent↗
PubMed1997

Cutaneous leiomyosarcoma.

We report the clinical, histopathologic, immunohistologic, and prognostic findings in 19 patients with cutaneous leiomyosarcoma, eight males and 11 females (mean age, 66 years; age range, 41-93 years). The tumors presented mainly as solitary lesions and were located on the head and neck (eight lesions), trunk (four lesions), upper extremities (three lesions), and lower extremities (four lesions). Histopathologically, two predominant growth patterns were observed: nodular (12 cases) and diffuse (seven cases). Neoplasms with a nodular growth pattern were characterized by high cellularity and prominent nuclear atypia, and they showed conspicuous mitoses, several necrotic cells, and sometimes extensive necrotic areas. By contrast, most cutaneous leiomyosarcomas with a diffuse growth pattern revealed low cellularity, well-differentiated smooth muscle cells, inconspicuous mitotic figures, and few or no necrotic cells. Immunohistologic investigations revealed all cutaneous leiomyosarcomas to express vimentin and smooth muscle actin. Pan-muscle actin (HHF-35) was also expressed in most cases (15 lesions). However, only 12 lesions showed positive staining for desmin. Remarkable was the expression of cytokeratins in five lesions. Clinical follow-up revealed local recurrences in five patients (three cases with nodular pattern and two lesions with a diffuse pattern) after a period ranging from 8 months to 3 years after surgical excision. No distant metastases have been observed in our series. We conclude that cutaneous leiomyosarcoma with a diffuse growth pattern may constitute a pitfall in histopathologic diagnosis because of the presence of only subtle criteria for malignancy. Cutaneous leiomyosarcoma may show different immunophenotypes, thus emphasizing the importance of using a large panel of antibodies (smooth muscle actin, HHF-35, desmin, vimentin, cytokeratins, and S-100 protein) in immunohistologic diagnosis. Cutaneous leiomyosarcoma sometimes reveals local recurrences, but it has negligible potential for distant metastases.

Actins↗
PubMed1997

A subepidermal blistering disease with histopathological features of dermatitis herpetiformis and immunofluorescence characteristics of bullous pemphigoid: a novel subepidermal blistering disease or a variant of bullous pemphigoid?

A 64-year-old man presented with a bullous eruption which clinically and histopathologically resembled dermatitis herpetiformis. However, direct immunofluorescence analysis showed IgG deposits at the basement membrane zone, indicating a relationship with bullous pemphigoid or epidermolysis bullosa acquisita. Indirect immunofluorescence studies on salt-split skin showed binding of IgG mainly on the dermal side of the blister. Immunoblot analysis revealed a novel 200 kDa dermal antigen that could be associated with a major pathogen in this blistering disease. The histopathological similarity to dermatitis herpetiformis and the immunofluorescence findings indicating bullous pemphigoid or epidermolysis bullosa acquisita seem typical of a distinct subepidermal blistering disease characterized by this 200 kDa antigen. However, the pathogenetic role of autoantibodies against this antigen should be further elucidated before confirming whether this case represents a novel subepidermal blistering disease or a special variant of bullous pemphigoid.

Autoantigens↗
PubMed1996

Influence of skin tension and formalin fixation on sonographic measurement of tumor thickness.

BACKGROUND: High-resolution sonographic measurement of skin tumors, especially of malignant melanomas, allows presurgical assessment of the most important prognostic factor--tumor thickness. A good correlation between ultrasonographic and histopathologic thickness measurement has been reported. Procedures for preparing tissue for histopathologic examination, such as excision, fixation in formalin, dehydration in alcohol, and embedding in paraffin, may cause the tissue to retract and shrink and may therefore affect thickness measurement results. OBJECTIVE: Our purpose was to evaluate the influence of skin preparation procedures on ultrasound measurement results and to compare tumor thickness values obtained sonographically versus those obtained histopathologically. METHODS: Sixty-three epithelial (n = 37) and melanocytic (n = 26) tumors, benign as well as malignant, were measured by ultrasound before and immediately after excision and after overnight fixation. Sonographically and histopathologically determined tumor thicknesses were compared. RESULTS: Loss of skin tension after excision led to an increase in measured tumor thickness because of spherical retraction of the specimen. Subsequent fixation, dehydration, and embedding reversed this effect, so that altogether, histopathologically assessed tumor thickness was only slightly lower than ultrasound-derived thickness before excision. This was true for melanocytic as well as epithelial lesions. CONCLUSION: Loss of skin tension after excision and tissue preparation procedures seem to offset each other and lead to a good overall correlation between ultrasonographic and histopathologic measurements.

Adolescent↗
PubMed1995

[Cutaneous calciphylaxis in chronic renal failure].

A case of a 53-year-old chronically uraemic female patient who suddenly developed widespread cutaneous necrosis on both thighs is presented. On the basis of the typical histopathological features a diagnosis of calciphylaxis was made and supported by elevated serum parathyroid hormone levels. Calciphylaxis is a rare and serious disease, mostly seen in uraemic patients subjected to chronic haemodialysis. Typical features are calcifying panniculitis and thrombosis of small to medium-sized blood vessels followed by necrosis of the skin. The poor prognosis is due to systemic calcifications of visceral organs. When acute cutaneous necrosis of the skin is encountered in patients with chronic uraemia calciphylaxis should always be considered as a possible cause in the differential diagnosis. Determination of the serum parathyroid hormone level is recommended.

Biopsy↗