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Biomedical subjects

K M Müller

Publications and source records attributed to K M Müller.

At least 19 recordsLinked to original sources
PubMed2003

Adult polyglucosan body disease: a postmortem correlation study.

Autopsy of a 50-year-old woman with adult polyglucosan body disease and missense mutations (Arg515His, Arg524Gln) in the glycogen branching enzyme gene (GBE) revealed accumulation of polyglucosan bodies in the heart, brain, and nerve. GBE activity was decreased in the morphologically affected tissues but was normal in unaffected tissues. GBE mRNA transcripts were similar in all tissues and in controls, which confirms the lack of tissue-specific GBE isoforms.

1,4-alpha-Glucan Branching Enzyme↗
PubMed2003

Does interferon-gamma improve pulmonary function in idiopathic pulmonary fibrosis?

Idiopathic pulmonary fibrosis (IPF) is a disease with progressive and devastating deterioration of lung function and a fatal prognosis, despite aggressive therapeutic attempts, which, in the majority of cases are futile. Recently, a preliminary study of long-term treatment with interferon (IFN)-gamma1b and low-dose prednisolone in patients with IPF suggested that IFN-gamma1b treatment may improve lung function parameters of patients with IPF. Ever since, specialists in respiratory medicine who treat patients with IPF, are called by patients demanding treatment with IFN-gamma1b. Therefore, the authors here present another prospective investigation of IFN-gamma1b in five patients with IPF. According to the previously published design, patients received 200 microg IFN-gamma1b subcutaneously three-times per week and 10 mg prednisolone orally for 12 months. Two patients stopped IFN-gamma1b treatment after 4 months due to side-effects and further lung function deterioration and one patient died 3 months after commencement of therapy. In total, pulmonary function improved in only one patient during IFN-gamma1b treatment, while four patients deteriorated. To conclude, this small series of idiopathic pulmonary fibrosis cases treated with interferon-gamma1b and corticosteroids does not support previous data that this treatment improves pulmonary function or alters the natural course of idiopathic pulmonary fibrosis. Furthermore, in the authors' experience, side-effects of interferon-gamma1b treatment can significantly reduce patients' quality of life.

Aged↗
PubMed2003

[Why to operate on the carotid artery?].

UNLABELLED: AIM, METHODS, PATIENTS: In a prospective interdisciplinary study of 468 carotid artery stenoses we compared the ultrasound plaque morphology with the histological diagnosis. RESULTS: For detection of soft plaques and hard plaques by preoperative ultrasound examination we found a sensitivity of 80%. The accuracy for the estimation of the degree of the stenosis was 98%. In case of stroke in progression and completed stroke we found ulcerations by histological examination in 72%. By ultra-sound these ulcerations were detected only in 53%. We found a significant higher figure for TIA and stroke in soft plaque patients than in asymptomatic stage, in which hard plaque formation was seen more often. CONSEQUENCES: Patients with a soft plaque seem to have a higher risk of a postoperative permanent neurological deficit. However, the dangerous plaque formation with thrombosis or ulceration was not be detected with appropriate accuracy. Therefore the risk of embolisation cannot be predicted sufficiently by means of duplex scanning. This would be extremely important for the indication for stenting in this area. The number of HITS (high intensity transient signals) is 8 to 20 times higher in carotid stenting.

Carotid Arteries↗
PubMed2002

[Iatrogenic "metalloma" (titanoma) caused by implant failure in "metal-backed" patellar joint surface replacement].

Patellofemoral problems frequently provide the cause for revisions after total knee replacements (TKR). Problems with metal-backed patellae, in particular, have been reported on in the past, with a failure rate of 33%. As a result of implant failure, there is an increase of polyethylene and metallic wear, which eventually leads to a synovialitis and metallosis. We report a case of a iatrogenic induced metallosis of the knee joint resulting from failure of a metal-backed patella component with the formation of a substantial pseudotumor within the popliteal fossa. Intraoperatively, a browny-grey, knotted and hard structure was to be seen, which histologically imposed as a hyalinated scar tissue with black particular deposits. Energy dispersive X-ray microanalysis showed a high level of titanium within the intra- and extracellular deposits. In differential diagnosis these findings were postulated as "metalloma" (titanoma). In cases of periprosthetic pseudotumors, particular those with implant failure, a iatrogenic-induced metalloma should be considered.

Adult↗
PubMed2002

[Reaction patterns to cutaneous particulate and ornamental tattoos].

Particulate matter incorporated into the skin of former miners was compared to ornamental tattoos with regard to composition and cutaneous reaction pattern. The specimens were examined histologically and immunohistochemically followed by scanning electron microscopy and element analysis. In the skin biopsies containing dirt particles, silicon and aluminium were regularly found and the particles were positively birefringent under the light microscope. Even years after the initial foreign particle incorporation strong reactions against quartz-containing substances deposited perivascularly and perifollicularly continued to take place. Reactions ranged from strong macrophage activation to pre-granulomatous changes. Anthracotic pigment was demonstrated in all layers of the dermis depending on the degree of traumatic insult and the colour pigments of the ornamental tattoos showed a variable spectra of elements depending on the type of dye used. Fibrous reactions were only discrete, however, strong macrophage activation and sometimes capillary proliferation as well as non-specific lymphocytic infiltration could still be confirmed even decades after the initial incorporation. In conclusion, the cutaneous incorporation of ornamental tattoo dyes and accidental dirt particles is not an inert process. Even years later, non-specific macrophage activation as well as discrete inflammatory changes in an attempt to degrade the foreign material can still be documented. A clear correlation between subcutaneous incorporated quartz particles and progressive systemic sclerosis was not found in this study.

Humans↗
PubMed2002

[Fatal cardiomyopathy in adult in polyglucosan body disease].

Adult polyglucosan body disease (APBD) is a rare genetic disorder, inherited in an autosomal recessive mode. The disease is caused by mutations of the gene coding for the glycogen-branching enzyme, which is essential for branching of polyglucose chains in the normal glycogen molecule. The age of clinical manifestation of the disease mostly is between 40 and 60 years and its course is slowly progressive. Characteristic globular deposits (polyglucosan bodies, PGB) can be detected in biopsies of skin and skeletal muscle as well as in the peripheral and central nervous system. Biochemically, PGBs consist of poorly branched glycogen molecules with abnormally long polysaccharide chains. We report the case of a 50-year-old female patient with APBD who suffered from neurological symptoms such as spastic tetraparesis, urinary incontinence, hypesthesia and dementia. She died unexpectedly of cardiac failure. At autopsy a severe cardiomyopathy with abundant PGBs in the heart muscle fibres could be proven as the cause of death. This observation shows that in addition to the known deposition of PGBs in nervous system and skeletal muscle, an involvement of the heart has to be considered in APBD as well.

1,4-alpha-Glucan Branching Enzyme↗
PubMed2002

Tuberculous involvement of the oesophagus with oesophagobroncheal fistula.

Tuberculous involvement of the oesophagus is a rare disease. Even if it is suspected, diagnosis is often difficult though dysphagia and chest pain are the most common symptoms without any other specific signs of tuberculosis. The diagnosis is based on oesophagography, oesophagoscopy, bronchoscopy, and computed tomographic scan. Suspected tuberculosis can be confirmed with histology, smear, and culture. The two most common differential diagnoses are Crohn's disease and carcinoma. The case is reported of a female patient with tuberculous involvement of the oesophagus, who developed an oesophagobroncheal fistula during steroid treatment started for suspicion of Crohn's disease. The patient was immunocompromised due to treatment with azathioprine that she was receiving for multiple sclerosis. The fistula was successfully treated by antituberculous chemotherapy alone.

Adult↗
PubMed2002

[Late pulmonary manifestation of ovarian and breast cancer--which contribution provide immunohistochemical techniques?].

The two case studies are describing 2 females with tumor-suspicious lung opacities including pleural effusions. Both patients have had a smoking history of more than 20 packyears and both underwent surgery for a breast respectively an ovarian cancer 10/15 years before. Conventional staining of the biopsies does not allow in most cases the differentiation between a primary lung carcinoma or the metastasis of an extrapulmonary tumor. Immunohistochemical techniques can give clues as to the origin of the primary tumor. The contribution of these methods in finding the correct diagnosis in the two presented cases is discussed. The cooperation between clinician and pathologist should be emphasized. The transfer of all important information is essential.

Aged↗
PubMed2002

[Inflammatory pseudopapilloma after recurring aspiration of fruit stones as rare differential diagnosis of bronchogenic cancer].

We present the case of a 51-year old man with drug-resistant pneumonia in the upper right lobe, weight loss and a 50-pack year history of cigarette smoking who underwent bronchoscopy. By clinical and radiological findings bronchogenic cancer was assumed. Fiberbronchoscopy showed an exophytic tumor-like mass obliterating the right upper lobe. Biopsies revealed an epithelial pseudopapillomatous tumor with multiple mucosal dysplasia and metaplasia. A second bronchoscopy in order to remove the lesion revealed a foreign body embedded in the tissue which could be removed easily. The foreign body proved to be a cherry stone, after its removal pneumonia resolved completely. In the same patient this lesion was recurrent one year later after aspiration of a grape seed. We present this case to emphasize the relationship between foreign body aspiration and inflammatory pseudopapilloma as a sequela of the inflammatory insult provoked by foreign bodies. Bronchoscopy is mandatory and may obviate misdiagnosis and thoracotomy. The use of inhaled and systemic steroids can be used to facilitate successful endoscopic extraction.

Carcinoma, Bronchogenic↗
PubMed2002

Fibre-years, pulmonary asbestos burden and asbestosis.

The relations between cumulative asbestos fibre doses at the work-places and asbestos burden of the lung evaluated by lung dust analyses have been tested on 3 different groups of patients of the German Mesothelioma Register: 1. total collective (n = 366), 2. collective without elevated asbestos burden of the lungs (n = 193), 3. collective with asbestoses/minimal asbestoses (n = 64). The relations between the above mentioned parameters are in general only weak. The limit value of > 25 fibre-years is found in 19.6% of persons without increased pulmonary asbestos burden. In spite of reaching or exceeding the cumulative doses of 25 fibre-years, 24% of the whole collective also show no elevated asbestos-concentrations in their lung tissues. By contrast, 42% of patients with asbestos-associated lung fibroses do not attain 25 fibre-years at their work-places. Considering our data it is doubtful that the postulated limit value of 25 fibre-years can be an adequate parameter for the evaluation of asbestos-associated lung fibroses.

Adult↗
PubMed2002

[Plaque morphology of the carotid bifurcation and incidence of embolisms in relation clinical stage of cerebrovascular insufficiency].

Vascular morphology and determination of plaque surface structure are getting more and more matter of interest before revascularisation procedures are performed. One reason may be the increase of interventional treatment (PTA). For that we investigated the value of ultrasound duplex scanning to predict preoperatively the vascular surface and plaque structure. 368 patients operated on obstructing stenosis of the carotid artery could be enrolled in this investigation. In all patients duplex ultrasound scanning was performed preoperatively. In 127 patient an analysis of TC-Doppler curve was possible. During some operations (eversion endarteriectomie) we performed experimental stent implantation. The evaluation was performed with statistical methods.

Aged↗
PubMed2002

[Recurrent tumor--pathologic-anatomic findings].

Based on pathological-anatomical findings, early (2 months) and late (2 years) local and distant recurrencies are presented, considering topographic aspects following surgery of primary pulmonary tumours, metastatic pathways and time intervals. Morphological criteria for differentiating two tumours from metastases, systemic recurrencies of the basic disease following early micrometastatic spread, as well as the grading of tumour regression in surgical samples following radio chemotherapy are shown.

Diagnosis, Differential↗
PubMed2001

[Pleural mesothelioma. I: History, epidemiology, clinical aspects (symptoms, diagnosis)].

EPIDEMIOLOGY: Although production and processing of asbestos have been prohibited for years, the incidence of mesothelioma of the pleura will rise in Western Europe. The incidence of mesothelioma will peak between the years 2010 and 2020. It will cause an estimated 250,000 deaths within the next 35 years. PATHOGENESIS: The fact that exposure to asbestos fibers may result in mesothelioma was first described in 1960. The risk of developing mesothelioma depends mainly on the type of asbestos fibers and the way asbestos is manufactured. Environmental eronite fibers in Central Turkey are the cause of endemic mesothelioma. The pathogenetic role of infection with simian virus 40 is still not determined. Thoracic radiation is of minor importance in the etiology of pleural mesothelioma. DIAGNOSIS: Between first symptoms of disease and diagnosis of mesothelioma often more than 6 months pass as clinical symptoms are rarely typical. Detection of early stages by invasive procedures and imaging is often very difficult. Histopathological distinction between adenocarcinoma and mesothelioma requires experienced pathologists. This implies that management of mesothelioma should only be performed in multidisciplinary cooperation in specialized centers.

Asbestos↗
PubMed2001

Evolution of IESs and scrambling in the actin I gene in hypotrichous ciliates.

Germ-line (micronuclear) genes in hypotrichous ciliates are interrupted by numerous, short, noncoding, AT-rich segments called internal eliminated segments, or IESs. IESs divide a gene into macronuclear destined segments, or MDSs. IESs are excised from micronuclear genes, and the MDSs are spliced when a micronuclear genome is processed into a macronuclear genome after cell mating. In the micronuclear version of the actin I gene intramolecular recombination between IESs during evolution has put MDSs into a scrambled disorder in some but not all hypotrichs. Studies using rDNA sequences to define phylogenetic relationships among eight hypotrichs suggests that evolution of the micronuclear actin I gene proceeds by successive addition of IESs in earlier diverging species, without MDS scrambling. Continued addition of IESs and recombination among IESs in later diverging species produced actin I genes with scrambled MDSs. Subsequent to MDS scrambling, additional IESs were inserted into the more recently evolved species. Thus, IES insertions and gene scrambling occur in a progressive manner during species evolution to produce micronuclear actin I genes of increasing structural complexity.

Actins↗
PubMed2001

[Association of primary sclerosing cholangitis and sarcoidosis].

BACKGROUND: Primary sclerosing cholangitis and sarcoidosis are rarely associated diseases. CASE REPORT: We report the case of an 42-year-old woman with primary sclerosing cholangitis confirmed by endoscopic cholangiography, biopsy of the liver and serum neutrophil cytoplasmatic antibodies. Furthermore radiological and histological signs of pulmonary and hepatic manifestation of sarcoidosis were observed, besides there were alopecia areata and choledocholithiasis. CONCLUSION: The present case report gives a brief survey of the literature, reflects the theories to unknown etiology and reports actual aspects of diagnosis and therapy of both diseases.

Adult↗
PubMed2001

Helix-stabilized Fv (hsFv) antibody fragments: substituting the constant domains of a Fab fragment for a heterodimeric coiled-coil domain.

Antibody Fv fragments would in principle be useful for a variety of biotechnological applications because of their small size and the possibility to produce them in relatively large amounts in recombinant form; however, their limited stability is a drawback. To solve this problem, both domains are usually fused via a peptide linker to form a single-chain Fv (scFv) fragment, but in some cases this leads to a dimerization. We present an alternative format for stabilizing antibody Fv fragments. The C(H)1 and C(L) domain of the Fab fragment were replaced with a heterodimeric coiled coil (WinZip-A2B1), which had previously been selected using a protein-fragment complementation assay in Escherichia coli. This new antibody format was termed helix-stabilized Fv fragment (hsFv), and was compared to the corresponding Fv, Fab and single-chain Fv format. Bacterial growth and expression of the hsFv was significantly improved compared to the Fab fragment. The hsFv fragment formed a heterodimer of heavy and light chain with the expected molecular mass, also under conditions where the scFv fragment was predominantly dimeric. The hsFv fragment was significantly more stable than the Fv fragment, and nearly as stable as the scFv fragment under the conditions used (80 nM protein concentration). Thus, the format of a helix-stabilized Fv (hsFv) fragment can be a useful alternative to existing recombinant antibody formats, especially in cases where poor expression of Fab fragments or multimerization of scFv fragments is a problem.

Amino Acid Sequence↗
PubMed2001

[Congenital pulmonary fibrosarcoma. Differential diagnosis of infantile pulmonary spindle cell tumors].

Primary pulmonary mesenchymal tumors are rare causes of intrathoracic lesions in newborns. We describe a case of pulmonary spindle-cell tumor with features of infantile fibrosarcoma and discuss the differential diagnosis of spindle-cell lesions in this location. In view of further case reports of the literature, this neoplasia can best be categorized in a spectrum of fibroblastic/myofibroblastic differentiated spindle-cell tumors, with excellent prognosis. Especially in congenital lesions a favorable clinical course is to be expected after complete surgical resection. Additional radio- and/or chemotherapy is not recommended.

Diagnosis, Differential↗