Biomedical subjects

J Müller

Publications and source records attributed to J Müller.

At least 19 recordsLinked to original sources

PubMed2007

Cervical dystonia in spinocerebellar ataxia type 2: clinical and polymyographic findings.

Eighteen patients from three large multigenerational families with genetically established spinocerebellar ataxia type 2 (SCA2) were examined, with special attention to the presence of dystonic features. Cervical dystonia (CD) was diagnosed according to standardised clinical criteria. CD was scored using the Tsui score. Polymyography was performed in six cases using bilateral surface electrode recordings of the sternocleidomastoid and trapezius muscles together with needle electrode recordings of the splenius capitis muscles bilaterally. CD was found in 11 of 18 patients (61%), and was the presenting symptom in one case. Severity of CD was mild to moderate, with Tsui scores ranging from 5 to 12 points. Polymyography in 6 of 11 SCA2 patients with CD showed the typical pattern of dystonia with spontaneous, involuntary muscle activation at rest in at least one neck muscle with disturbed reciprocal inhibition of antagonistic neck muscles. CD appears to be a common clinical feature in SCA2 and may precede ataxia and gait disturbance. By contrast, none of the 18 patients had dystonic features in other body regions. CD has probably been underreported in patients with the ataxic SCA2 phenotype and should be considered as an additional clinical manifestation in patients with hereditary ataxia.

Adult↗

PubMed2006

Fine mapping of the MAPT locus using quantitative trait analysis identifies possible causal variants in Alzheimer's disease.

In addition to senile plaques, neurofibrillary tangles are characteristic of Alzheimer's disease (AD) pathology, suggesting a clear involvement of the microtubule-associated protein tau (MAPT) in AD. Recent findings, suggesting that the H1c haplotype is associated with increased risk, now also implicate MAPT genetically. In this study, we aim to clarify this association by a fine mapping approach using both a traditional phenotypic association analysis and a quantitative trait (QT) analysis using cerebrospinal fluid (CSF) tau protein levels in the German population. Here, we report that both methodologies identify that the H1c haplotype may play important role in AD (AD risk, P=0.007, uncorrected; CSF tau levels, P=0.027, uncorrected). Further, the use of a sliding window approach in the QT analysis allowed for the narrowing down of the region where a probable causal variant may be located. The data suggest that this may lie at or within close proximity to the rs242557 single nucleotide polymorphism as association with CSF tau levels seems to be primarily driven by rs242557 in a gene dosage-dependent manner (trend model: P=0.002, uncorrected). These findings provide functional evidence to support the genetic association of MAPT with AD.

Aged↗

PubMed2006

Olivocochlear reflex effect on human distortion product otoacoustic emissions is largest at frequencies with distinct fine structure dips.

Activity of the medial olivocochlear efferents can be inferred by measuring the change of the level of distortion product otoacoustic emissions (DPOAE) during ipsilateral or contralateral acoustic stimulation, the so-called medial olivocochlear reflex (MOCR). A limitation of this measurement strategy, however, is the distinct variability of MOCR values depending on DPOAE primary tone levels and frequency, which makes selection of the stimulus parameters difficult. The objective of this study was to evaluate the dependence of MOCR values on DPOAE fine structure in humans. MOCR during contralateral acoustic stimulation was measured at frequencies with distinct non-monotonicity ("dip") in the DPOAE fine structure, and in frequencies with flat fine structure. One hundred and twenty one different primary tone level combinations were used (L(1)=50-60dB SPL, L(2)=35-45dB SPL, 1dB steps). The measurement was repeated on another day. The major findings were: (1) Largest MOCR effects can be found in frequencies which exhibit a distinct dip in DPOAE fine structure. (2) Primary tone levels have a critical influence on the magnitude of the MOCR effect. MOCR changes of up to 23dB following a L(1) change of only 1dB were observed. Averages of the maximum MOCR change per 1dB step were in the 3-5dB-range. Both findings can be interpreted in the light of the DPOAE two-generator model [Heitmann, J., Waldmann, B., Schnitzler, H.U., Plinkert, P.K., Zenner, H.P. 1998. Suppression of distortion product otoacoustic emissions (DPOAE) near 2f1-f2 removes DP-gram fine structure - evidence for a secondary generator. Journal of the Acoustical Society of America 103, 1527-1531]. According to the present results we propose, that assessing MOCR specifically at frequencies with a distinct dip in the DPOAE fine structure, in combination with fine variation of the stimulus tone levels, allows for a more targeted search for maximum MOCR effects. Future studies must show if this approach can contribute to the further clarification of the physiological roles of the olivocochlear efferents.

Acoustic Stimulation↗

PubMed2006

Comparison of different stomatal conductance algorithms for ozone flux modelling.

A multiplicative and a semi-mechanistic, BWB-type [Ball, J.T., Woodrow, I.E., Berry, J.A., 1987. A model predicting stomatal conductance and its contribution to the control of photosynthesis under different environmental conditions. In: Biggens, J. (Ed.), Progress in Photosynthesis Research, vol. IV. Martinus Nijhoff, Dordrecht, pp. 221-224.] algorithm for calculating stomatal conductance (g(s)) at the leaf level have been parameterised for two crop and two tree species to test their use in regional scale ozone deposition modelling. The algorithms were tested against measured, site-specific data for durum wheat, grapevine, beech and birch of different European provenances. A direct comparison of both algorithms showed a similar performance in predicting hourly means and daily time-courses of g(s), whereas the multiplicative algorithm outperformed the BWB-type algorithm in modelling seasonal time-courses due to the inclusion of a phenology function. The re-parameterisation of the algorithms for local conditions in order to validate ozone deposition modelling on a European scale reveals the higher input requirements of the BWB-type algorithm as compared to the multiplicative algorithm because of the need of the former to model net photosynthesis (A(n)).

Algorithms↗

PubMed2006

Development of a multi-residue method for the determination of 18 carbamates in tobacco by high-performance liquid chromatography/positive electrospray ionisation tandem mass spectrometry.

A multi-residue method for the determination of carbamates in tobacco was developed by high-performance liquid chromatography (HPLC) triple quadrupole mass spectrometry (MS). A rapid sample preparation consisted of an extraction step with methanol, centrifugation and 1:1 dilution with aqueous 10 mM ammonium acetate. After filtration these extracts were directly analysed by reversed-phase HPLC coupled to positive electrospray ionisation tandem mass spectrometry operated in the multiple reaction monitoring mode. Capillary voltage and dwell times were optimised to reduce matrix effects and to increase sensitivity. The method was validated for the determination of 18 carbamates in three main types of raw tobacco and three tobacco products. The interday accuracy ranged between 80 and 110% with a relative standard deviation (RSD) of <30%. The limits of quantification (LOQs) ranged between 0.01 and 0.04 ppm for almost all carbamates, except aldicarb sulfone, carbofuran, and pebulate, with LOQs between 0.10 and 0.20 ppm. These LOQs were clearly below the guidance residue levels defined by the Agrochemical Advisory Committee of CORESTA, an association of organisations having scientific research relative to tobacco.

Carbamates↗

PubMed2006

[Identification of biomarkers and therapeutic targets for renal cell cancer using ProteinChip technology].

In order to understand tumour biology in its complexity, it is necessary to investigate the proteomics in addition to the DNA and RNA level. SELDI-TOF-MS represents a new technology allowing a highly sensitive high-throughput analysis to detect specific protein profiles. In renal cancer, it was possible to define specific protein patterns in serum. Several proteins have been identified, i.e. serum amyloid alpha (SAA). Analysis of tumour tissues leads to a better understanding of tumour biology and provides the basis for differential classification and evaluation of prognosis. Investigation of the proteome concerning therapy results opens up the possibility of assessing downstream effects on the one hand and identifying biomarkers for selection of patients and therapy monitoring on the other hand. This review presents the first results for renal cancer.

Carcinoma, Renal Cell↗

PubMed2006

[Endovascular therapy of non-aneurysmatic infrarenal aortic rupture].

INTRODUCTION: Endovascular therapy is being used increasingly also to treat ruptured infrarenal aortic aneurysms. Non-traumatic rupture of non-aneurysmatic infrarenal aorta is an absolute rarity. METHODS: The feasibility of endovascular repair of infrarenal aortic rupture is demonstrated with a case history and a literature review. RESULTS: A 58-year-old male developed spontaneous rupture of his infrarenal aorta after successful chemotherapy resulting in regression of a periaortic tumor. The patient suffered from a sepsis for several days before aortic rupture was discovered during computed tomography for focus search. Immediate endovascular stent-graft repair was performed under emergency conditions. There is no recurrence and the patient is doing well with the stent-graft in place without any pathological finding after a follow-up of 24 months. So far only three further cases have been reported of endovascular repair for penetrating atherosclerotic ulcer with rupture of the infrarenal aorta. DISCUSSION: This is the first report of endovascular repair of aortic rupture due to successful chemotherapy of a periaortic mesothelioma. Furthermore, this is the fourth case of successful stent-graft placement to treat non-aneurysmatic rupture of the infrarenal aorta. Minimally invasive endovascular therapy should become a standard treatment option for aortic rupture.

Angioplasty, Balloon↗

PubMed2006

National registry of patients with juvenile idiopathic inflammatory myopathies in Hungary--clinical characteristics and disease course of 44 patients with juvenile dermatomyositis.

Idiopathic inflammatory myopathies (IIMs) are systemic autoimmune diseases characterized by chronic muscle inflammation resulting in progressive weakness and frequent involvement of internal organs, mainly the pulmonary, gastrointestinal and cardiac systems which considerably contribute to the morbidity and mortality of the IIMs. Aim of this study was to present clinical characteristics, disease course, frequency of relapses and survival in patients with juvenile dermatomyositis (DM). A national registry of patients with juvenile IIMs was elaborated by the authors in Hungary. We have summarized data of the register according to signs and symptoms, disease course, frequency of relapses and survival of patients with juvenile IIM. Analysis was performed using data of 44 patients with juvenile DM diagnosed between 1976 and 2004 according to Bohan and Peter's criteria. Survival probability was calculated by Kaplan-Meier method. Data of patients with juvenile DM were compared with data of 66 patients with adult DM. The most frequent cutaneous features were facial erythema and heliotrope rash. Extramuscular and extraskeletal manifestations of the disease were more frequent in adult patients. The most common extramuscular feature was arthralgia in both groups of patients with juvenile or adult DM. Cardiac manifestation of the disease was not observed in juvenile patients. Respiratory muscle involvement and interstitial lung disease (ILD) were more frequent among adult DM patients than cardiac manifestation of the myositis. In view of the disease course, the authors found that frequency of polycyclic and monophasic subtypes of the disease were mainly similar. The hazard of relapse was found higher during the first year after the remission. None of the juvenile patients died. Among adult patients four disease-specific deaths occurred. There was no correlation between relapse free survival and initial therapeutic regimen. Many of our patients had polycyclic or chronic disease. As relapses can occur after a prolonged disease-free interval, patients should be followed up for at least 2 years. Although we found favourable survival probability, further investigations are needed to assess functional outcome.

Adolescent↗

PubMed2006

[Ultrastructural characters defining the terms 'yeast cell', 'pseudomycelium' and 'true mycelium' in Candida albicans].

The discrimination of the morphological elements, 'yeast cell', 'pseudomycelium' and 'true mycelium' is indispensable in the mycological and histopathological diagnostics of fungal infections caused by Candida albicans. However, precisely defined distinctive criteria are lacking in the medical mycological literature. Such criteria based upon electron microscopical studies of the cell wall, are described.

Candida albicans↗

PubMed2006

[Diagnostics of fungal infections of the eye and of its adnexa].

The spectrum of fungal infections of the eye and of its adnexa is presented with respect to their clinical pictures as well as to their laboratory diagnostic monitoring. The various types of localisation are different in their symptomatologies, in their risk factors and in their aetiology.

Adult↗

PubMed2006

Prevalence of erosive tooth wear and associated risk factors in 2-7-year-old German kindergarten children.

OBJECTIVES: The aims of this study were to (1) investigate prevalence and severity of erosive tooth wear among kindergarten children and (2) determine the relationship between dental erosion and dietary intake, oral hygiene behaviour, systemic diseases and salivary concentration of calcium and phosphate. MATERIALS AND METHODS: A sample of 463 children (2-7 years old) from 21 kindergartens were examined under standardized conditions by a calibrated examiner. Dental erosion of primary and permanent teeth was recorded using a scoring system based on O'Sullivan Index [Eur J Paediatr Dent 2 (2000) 69]. Data on the rate and frequency of dietary intake, systemic diseases and oral hygiene behaviour were obtained from a questionnaire completed by the parents. Unstimulated saliva samples of 355 children were analysed for calcium and phosphate concentration by colorimetric assessment. Descriptive statistics and multiple regression analysis were applied to the data. RESULTS: Prevalence of erosion amounted to 32% and increased with increasing age of the children. Dentine erosion affecting at least one tooth could be observed in 13.2% of the children. The most affected teeth were the primary maxillary first and second incisors (15.5-25%) followed by the canines (10.5-12%) and molars (1-5%). Erosions on primary mandibular teeth were as follows: incisors: 1.5-3%, canines: 5.5-6% and molars: 3.5-5%. Erosions of the primary first and second molars were mostly seen on the occlusal surfaces (75.9%) involving enamel or enamel-dentine but not the pulp. In primary first and second incisors and canines, erosive lesions were often located incisally (51.2%) or affected multiple surfaces (28.9%). None of the permanent incisors (n = 93) or first molars (n=139) showed signs of erosion. Dietary factors, oral hygiene behaviour, systemic diseases and salivary calcium and phosphate concentration were not associated with the presence of erosion. CONCLUSIONS: Erosive tooth wear of primary teeth was frequently seen in primary dentition. As several children showed progressive erosion into dentine or exhibited severe erosion affecting many teeth, preventive and therapeutic measures are recommended.

Age Factors↗

PubMed2005

Interaction of kinesin motors, microtubules, and MAPs.

Kinesins are a family of microtubule-dependent motor proteins that carry cargoes such as vesicles, organelles, or protein complexes along microtubules. Here we summarize structural studies of the "conventional" motor protein kinesin-1 and its interactions with microtubules, as determined by X-ray crystallography and cryo-electron microscopy. In particular, we consider the docking between the kinesin motor domain and tubulin subunits and summarize the evidence that kinesin binds mainly to beta tubulin with the switch-2 helix close to the intradimer interface between alpha and beta tubulin.

Animals↗

PubMed2005

PCR detection of virulence-associated genes in Campylobacter jejuni strains with differential ability to invade Caco-2 cells and to colonize the chick gut.

In this study, the presence of 20 putative virulence genes was examined in 11 Campylobacter jejuni isolates with different colonization and invasion abilities as determined in a chick colonization model and on Caco-2 cells, respectively. The majority of the genes were detected in all strains. Among them, there were genes of the flagellar secretion apparatus like flhA, flhB, flgB, flgE2, the flagellin genes flaA and flaB, invasion-associated genes like ciaB and iamA, the cytotoxin genes cdtA-C, the adhesion related gene cadF, and some genes involved in the colonization process (docA, docB). The plasmid gene virB11 could not be detected in any strain. Specific differences between the isolates were observed only in genes cgtB and wlaN involved in lipo-oligosaccharide (LOS) biosynthesis. The gene cgtB was only detectable in three of five strains with strong colonization and invasion abilities. Probably, wlaN can overcome the lack of cgtB in the two cgtB- isolates.

Animals↗

PubMed2005

Optimal harvesting and optimal vaccination.

Two optimization problems are considered: Harvesting from a structured population with maximal gain subject to the condition of non-extinction, and vaccinating a population with prescribed reduction of the reproduction number of the disease at minimal costs. It is shown that these problems have a similar structure and can be treated by the same mathematical approach. The optimal solutions have a 'two-window' structure: Optimal harvesting and vaccination strategies or policies are concentrated on one or two preferred age classes. The results are first shown for a linear age structure problem and for an epidemic situation at the uninfected state (minimize costs for a given reduction of the reproduction number) and then extended to populations structured by size, to harvesting at Gurtin-MacCamy equilibria and to vaccination at infected equilibria.

Age Distribution↗

PubMed2005

Restless legs syndrome: a community-based study of prevalence, severity, and risk factors.

OBJECTIVE: To assess the prevalence and severity of restless legs syndrome (RLS) in the general community and to investigate its potential relationship with iron metabolism and other potential risk factors. METHODS: This was a cross-sectional study of a sex- and age-stratified random sample of the general population (50 to 89 years; n = 701). The diagnosis of RLS was established by face-to-face interviews; severity was graded on the RLS severity scale. Each subject underwent a thorough clinical examination and extensive laboratory testing. RESULTS: The prevalence of RLS was 10.6% (14.2% in women, 6.6% in men); 33.8% of all patients with RLS had mild, 44.6% had moderate, and 21.6% had severe disease expression. None had been previously diagnosed or was on dopaminergic therapy. Free serum iron, transferrin, and ferritin concentrations were similar in subjects with and without RLS. However, soluble transferrin receptor (sTR) concentrations were different in subjects with and without RLS (1.48 vs 1.34 mg/L; p < 0.001). Female sex and high sTR independently predicted the risk of RLS. CONCLUSION: This large survey confirms the high prevalence, female preponderance, and underrecognition of restless legs syndrome in the general community. Although two-thirds of patients had moderate to severe disease, none was on current dopaminergic therapy.

Aged↗

PubMed2005

Cellular and complement-dependent cytotoxicity of Ep-CAM-specific monoclonal antibody MT201 against breast cancer cell lines.

MT201 is a fully human monoclonal IgG1 antibody with moderate affinity for epithelial cell adhesion molecule (Ep-CAM) being clinically developed for the treatment of carcinomas. Like many other clinically validated IgG1 monoclonal antibodies, MT201 primarily acts by antibody-dependent cellular cytotoxicity (ADCC) and complement-dependent cytotoxicity (CDC). Here, we analysed ADCC and CDC induced by MT201 and, as reference, trastuzumab against a panel of nine human breast cancer cell lines expressing distinct surface levels of Ep-CAM and human epithelial growth factor receptor type 2 antigen. Maximal cell lysis by ADCC by MT201 and trastuzumab in the presence of peripheral mononuclear cells did not significantly differ when averaged over the nine cell lines, but showed marked differences with respect to individual cell lines. The extent of cell lysis at intermediate surface target density was highly variable, suggesting a dominant influence of other susceptibility factors. Only one breast cancer cell line was eliminated via CDC, but only by MT201. Resistance to CDC appeared to correlate with high expression levels of complement resistance factors. Our present data as well as recent data on the prevalence and prognostic relevance of Ep-CAM expression in metastatic breast cancer suggest that Ep-CAM-specific monoclonal IgG1 antibodies may have a significant therapeutic potential in the treatment of breast cancer.

Animals↗

PubMed2005

Treatment of severe tardive dystonia with pallidal deep brain stimulation.

In five patients with medically refractory tardive dystonia, continuous bilateral high-frequency stimulation of the globus pallidus internus was associated with a rapid (within 12 to 72 hours) and substantial (mean 87%, 10.7 SD of the motor part of the Burke-Fahn-Marsden Dystonia Rating Scale) improvement of dystonia and functional disability without adverse events.

Aged↗

PubMed2005

[Malignant paranasal sinus tumors. Diagnosis, therapy and results].

BACKGROUND: Malignant neoplasmas of the paranasal sinuses are rare and present usually in advanced tumor stage due to the lack of early clinical symptoms. PATIENTS AND METHODS: In the last 10 years, 63 patients with paranasal malignancies were treated at the Department of Otolaryngology, Head and Neck Surgery of the University of Würzburg. 33% of the patients showed an occupational exposition (wood-processing or metal industry). At the time of the first visit to our institution 95% of the patients presented with an extensive disease, staged T3 and T4. Adenocarcinoma (24%), squamous cell carcinoma (22%) and malignant melanoma (19%) were the most common histologies. Surgery combined with radiotherapy was the treatment strategy in 55 patients (87%). RESULTS: Patients with a complete surgical resection showed a higher 5-year-survival rate (77%) than patients with an incomplete resection (56%). In 38% (n=21) of the patients treated with surgery and radiotherapy, a local recurrence of the tumor was observed. This recurrence localised in the skull base and/or the orbita/periorbita occurred most frequently in the first (46%) or the second year (31%). CONCLUSION: The prognosis of malignant paranasal tumors depends mainly on the control of the local tumor growth. Modern strategies of surgical treatment in combination with radiotherapy need to be implemented in an effort to achieve a continuous remission.

Adenocarcinoma↗