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J Weis

Publications and source records attributed to J Weis.

At least 37 records · Page 2Linked to original sources
PubMed2003

U7 snRNAs induce correction of mutated dystrophin pre-mRNA by exon skipping.

Most cases of Duchenne muscular dystrophy are caused by dystrophin gene mutations that disrupt the mRNA reading frame. Artificial exclusion (skipping) of a single exon would often restore the reading frame, giving rise to a shorter, but still functional dystrophin protein. Here, we analyzed the ability of antisense U7 small nuclear (sn)RNA derivatives to alter dystrophin pre-mRNA splicing. As a proof of principle, we first targeted the splice sites flanking exon 23 of dystrophin pre-mRNA in the wild-type muscle cell line C2C12 and showed precise exon 23 skipping. The same strategy was then successfully adapted to dystrophic immortalized mdx muscle cells where exon-23-skipped dystrophin mRNA rescued dystrophin protein synthesis. Moreover, we observed a stimulation of antisense U7 snRNA expression by the murine muscle creatine kinase enhancer. These results demonstrate that alteration of dystrophin pre-mRNA splicing could correct dystrophin gene mutations by expression of specific U7 snRNA constructs.

Animals↗
PubMed2003

[Current aspects of myopathology].

Advances in morphology, biochemistry and molecular genetics have been the basis of remarkable progress in the understanding of diseases of skeletal muscle during the last two decades. Many hereditary muscle diseases have been linked to specific gene defects. The functions of the respective proteins and the consequences of their mutations are now being characterized and correlated with the morphologically detectable muscle alterations. This review briefly summarizes the current state of knowledge of the pathogenesis of clinically relevant muscle diseases.

Biopsy↗
PubMed2003

Cancer-related fatigue in patients attending oncological rehabilitation programs: prevalence, patterns and predictors.

BACKGROUND: Fatigue is one of the most frequent symptoms in cancer patients. It is the aim of medical and psychosocial rehabilitation programs to reduce physical impairments and psychosocial distress. There are no reliable data on the prevalence or the pattern of fatigue in patients attending such rehabilitation programs. We therefore initiated a cross-sectional study to evaluate this phenomenon. PATIENTS AND METHODS: Using the EORTC QLQ-C30, HADS and MFI questionnaires in 144 patients with different malignant diseases the incidence, patterns and necessity of treatment of fatigue were evaluated. RESULTS: One third of the patients were diagnosed with breast cancer, 27% with gastrointestinal cancers and 20% suffered from haematologic/lymphatic diseases. There was a good correlation between fatigue levels in the 3 instruments used. 22% of all patients showed significant symptoms of fatigue. The univariate analysis did not reflect any significant differences in severity of fatigue with respect to diagnosis, haemoglobin levels, medical and therapeutic history or sociodemographic data. However, using cluster analysis we could identify 3 groups of patients that differ significantly in fatigue and quality-of-life measurements. CONCLUSION: We conclude from our data that fatigue is an important phenomenon in cancer patients who attend medical and psychosocial rehabilitation programs. This has an impact on the ability and degree to reintegrate these patients into everyday life.

Adult↗
PubMed2002

A multicenter study of treatment of primary CNS lymphoma.

OBJECTIVE: To characterize the therapeutic variables correlated to outcome in 370 patients with primary CNS lymphoma. METHODS: Planned treatment was radiotherapy (RT) in 98 patients, chemotherapy (CHT) in 32, RT followed by CHT in 36, and CHT followed by RT in 197 patients. High-dose methotrexate (HD-MTX; 1 to 8 g/m2) was used in 169 patients and intrathecal CHT in 109. RESULTS: One hundred sixteen patients are alive (median follow-up 24 months), with a 2-year overall survival of 37%. Patients treated with CHT followed by RT had improved survival with respect to patients treated with RT alone. Patients receiving HD-MTX-based primary CHT survived longer than those treated with other drugs. HD-MTX associated with other cytostatics, in particular HD-cytarabine, produced better results than HD-MTX alone. No correlation between MTX dose and survival was found. In patients receiving HD-MTX, consolidation RT or intrathecal CHT did not improve survival. Age, performance status, lactate dehydrogenase serum level, CSF protein level, site of disease, and use of HD-MTX were all predictors of survival. CONCLUSIONS: Combination CHT-RT is superior to RT alone. Patients treated with primary CHT containing HD-MTX exhibited improved survival. In these patients, the addition of HD-cytarabine was associated with a better survival, whereas intrathecal CHT was not correlated to outcome. RT may be unnecessary in patients achieving complete remission after receiving HD-MTX-based primary CHT.

Adolescent↗
PubMed2002

[Art therapy: development and evaluation of an observation instrument to systematically analyze patients' paintings from oncology and rheumatology].

INTRODUCTION: Art therapies have been established methods in oncology for many years. To what extent patients' pictures can be systematically described, and what connections to various illnesses are possibly thereby revealed, has been discussed in various specialized medical fields for over a hundred years. The following paper first presents insight into the present stand of research and then presents the results of the study. QUESTION: Are systematic analyses of pictures possible with the use of the instrument we have developed? Are pictorial differences evident within the researched group? METHOD: A previously developed instrument was submitted for expert questioning for the purpose of the study. The instrument that had been modified on the basis of these results could then be used in the study to interpret 162 pictures. Four different raters, three of whom were acquainted with neither the patients nor the pictures, interpreted these pictures independently of one another. RESULTS: The evaluation of the expert interpretations shows that this newly developed instrument is suitable for the differentiated description of patients' pictures. First important indications were drawn in regard to the pictorial differences between the two examined groups of cancer patients and patients with chronic polyarthritis. CONCLUSION: Systematic picture analyses are possible. A further analysis of the expert interpretations is necessary to clarify questions raised by the pictorial differences found in the various diagnostic groups.

Adult↗
PubMed2001

Immunocytochemical localization of angiotensin II receptor subtypes and angiotensin II with monoclonal antibodies in the rat adrenal gland.

Angiotensin II (Ang II), a major regulator of cardiovascular function and body fluid homeostasis, mediates its biological actions via two subtypes of G protein-coupled receptors, termed AT(1) and AT(2). The primary goal of this study was to raise monoclonal anti-peptide antibodies specific to angiotensin AT(1)- and AT(2)-receptor subtypes and to Ang II itself and using these monoclonal antibodies to determine the intraadrenal localization of AT(1) and AT(2) receptors and Ang II in male adult rats. Immunocytochemistry unambiguously demonstrates a regional colocalization of Ang II and angiotensin II receptors in the adrenal gland. The novel antibodies localized Ang II and the AT(1) receptors to the zona glomerulosa of the cortex and to the medulla whereas AT(2) receptors were limited to the medulla. The specificity of immunostaining was documented by pre-adsorption of the antibody with the immunogenic peptide. Our data underscore that AT(1) appears to mediate most of the physiological actions of Ang II in adrenal. Western blot analysis of rat adrenal protein extracts using AT(1) antibody showed a predominant 73-kDa band and a weaker 97-kDa immunoreactive band corresponding to glycosylated forms of the AT(1) receptor. Immunostaining with anti-AT(2) yielded one major immunoreactive band of 73-kDa size and one additional fainter band of 120 kDa. These antibodies may prove of value in unraveling the subcellular localization and intracellular effector pathways of AT(1) and AT(2).

Adrenal Glands↗
PubMed2001

A randomized trial of intravenous immunoglobulin in inflammatory demyelinating optic neuritis.

OBJECTIVE: To determine whether IV immunoglobulin (IVIg) reverses chronic visual impairment in MS patients with optic neuritis (ON). METHODS: In this double-blind, placebo-controlled Phase II trial, 55 patients with persistent acuity loss after ON were randomized to receive either IVIg 0.4 g/kg daily for 5 days followed by three single infusions monthly for 3 months, or placebo. RESULTS: The trial was terminated by the National Eye Institute because of negative results when 55 of the planned 60 patients had been enrolled. Fifty-two patients completed the scheduled infusions, and 53 patients completed 12 months of follow-up. Analysis of this data indicated that a difference between treatment groups was not observed for the primary outcome measure, improvement in logMAR visual scores at 6 months (p = 0.766). Exploratory secondary analyses suggested that IVIg treatment was associated with improvement in visual function (including logMAR visual scores at 6 months and visual fields at 6 and 12 months) in patients with clinically stable MS during the trial. CONCLUSIONS: IVIg administration does not reverse persistent visual loss from ON to a degree that merits general use.

Adult↗
PubMed2001

Hypothalamic amnesia with spontaneous confabulations: a clinicopathologic study.

Previous studies demonstrated that patients producing spontaneous confabulations fail to suppress currently irrelevant memory traces and have anterior limbic lesions, particularly involving the orbitofrontal cortex or the basal forebrain. Here, a woman is described who had sarcoidosis damaging the medial hypothalamus and endocrine dysfunction, and a severe memory failure characterized by spontaneous confabulation, disorientation, and severely impaired free recall with preserved recognition. Isolated hypothalamic damage may produce the same type of memory disorder as orbitofrontal damage.

Aged↗
PubMed2001

Spectroscopic imaging of bone marrow composition in vertebral bodies.

The proton spectroscopic imaging technique that uses read gradient during acquisition was used for the measurement of the proton spectra in the lumbar and thoracic part of the spine of a patient with breast cancer without known skeletal metastases. The bone marrow fat/water ratios were evaluated in the same location before and after chemotherapy treatment. The results were corrected for relaxation effects. The fat/water ratios showed a significant increase as a consequence of the bone marrow degradation process due to chemotherapy. The proposed spectroscopic imaging technique offers rapid acquisition of proton spectra from large volumes of the vertebral bodies.

Adipose Tissue↗
PubMed2001

Extensive white-matter changes in case of adult polyglucosan body disease.

Extensive white matter signal changes were observed on T2-weighted images of a 49-year-old man. He presented with a slowly progressive gait disorder, and finally developed severe dementia. Extensive metabolic and infectious investigations failed to disclose the underlying cause during life. Autopsy revealed adult polyglucosan body disease. We discuss MRI findings likely to permit this diagnosis if combined with clinical findings and nerve or skin biopsy.

Ataxia↗
PubMed2001

Congenital pseudarthrosis of the ulna and radius in two cases of neurofibromatosis type 1.

Two children with neurofibromatosis type 1 who presented at birth with congenital pseudarthrosis of the ulna and radius are described. The patients were treated with broad resections. As a consequence, the forearms were reduced in length. The osteotomies were stabilized in one patient first with endomedullary nailing and then with a free vascularized fibular graft. In the second patient the osteotomy was stabilized by external fixation. Using these techniques, rapid and excellent healing and normal function were achieved. In contrast to the lower extremity, reduction of the length of the forearm can be accepted to a certain extent. If necessary, an extension osteotomy can be performed at a later date.

Bone Transplantation↗
PubMed2001

High-resolution spectroscopic imaging of the human skin.

High-resolution water, fat and chemical shift artefact-free images of different areas of the skin were obtained on a whole-body MR unit (1.5 T) with commercial receiver surface coil with a diameter of 25 mm and high-power gradients (23 mT/m). Sufficient signal-to-noise ratio was achieved by lowering receiver bandwidth to +/-10 kHz or lower and shortening the echo time to 11 (13) ms. Spectroscopic image data sets were acquired with resolution 0.102 x 0.133 mm in plane and slice thickness 0.5 mm. The results demonstrate that it is possible to produce high-quality water and fat micro-images of the skin layers using only a few chemical shift encoding steps in a clinically reasonable time (approximately 2 minutes per slice).

Adipose Tissue↗
PubMed2001

Spectroscopy of large volumes: spectroscopic imaging of total body fat.

An extremely large volume of interest (VOI) approximately 60 dm(3) was used for the measurement of the proton ((1)H) spectrum of the human body. The measurements were performed at 1.5 T with a high-speed spectroscopic imaging technique that uses read gradient during acquisition. The spectrum was computed from coronal 30 mm thick slices of a normal male and female volunteer. The fat/water ratio of the body was used to quantify the fat depots. The results were corrected for relaxation effects and were in good agreement with published values of subjects with comparable body mass index (BMI).

Adipose Tissue↗
PubMed2001

Psychiatric disorders and associated factors in cancer: results of an interview study with patients in inpatient, rehabilitation and outpatient treatment.

An association between mental disorders, especially affective and anxiety disorders, and cancer has been reported in many studies. The present study investigated current (4-weeks-, 12-months-, and lifetime-prevalence rates of comorbid mental disorders in cancer patients. Through a cross-sectional design, 517 patients (75% female patients) from two acute inpatient care clinics, two rehabilitation clinics and nine specialised practices for oncology were examined with standardised scales for psychological burden and quality of life. Somatic parameters were assessed through standardised medical records. In the second-stage-examination, a sample of 200 patients was interviewed with standardised clinical interview (CIDI) in order to obtain DSM-IV diagnoses of mental disorders. Differences in the type of mental disorders were examined for gender, treatment setting, severity of cancer and physical impairment. Prevalence rates of mental disorders were 23.5% for the 4-weeks, 40% for the 12-months, and 56.5% for the lifetime periods. The current and 12-months rates of affective and anxiety disorders were approximately 25-33% higher than prevalence rates found in recent epidemiological studies of the general population. These higher rates were, however, mainly due to the preponderance of female patients with a higher risk for mental disorders compared with males. The most prevalent current disorders were affective (9.5%), and anxiety disorders (13%). Female gender was associated with an approximately 2-fold risk of mental disorders during the patient's lifespan. Current diagnosis of affective disorders in women was highly related to the cancer. Physical impairment was also associated with the frequency of current psychiatric disorders, especially affective and anxiety disorders. The frequency of mental disorders in cancer patients does not differ from results of recent international epidemiological studies of the normal population. The slightly higher rates of anxiety disorders are mainly due to phobias (simple, social and agoraphobia) without urgent need for treatment. A relatively large portion of patients, however, fulfil the criteria of minor depressive disorder which deserves clinical attention.

Adolescent↗
PubMed2001

Introduction of corneal astigmatism through placement of a scleral fixation ring in eye bank eyes.

PURPOSE: To determine the effect of scleral fixation ring placement in induction of astigmatism by topographic analysis. METHODS: Baseline measurements were used in human eyes from the Utah Lions Eye Bank. In two control eyes, the effect of placing and replacing the eye in the holder was determined. In nine eyes, the effect of placing a 14-mm ring 2.0-mm from the limbus and an 18-mm ring 4.0-mm from the limbus, both in line with and between the rectus muscles, was determined. Induced astigmatism (IA) was determined by Alpins' vector analysis method. RESULTS: Control eyes had a mean variation of 0.26 +/- 0.18 diopters (D) (range, 0.07-0.65). The study eyes had a mean IA of 1.55 D with statistically significant differences noted when comparing 14-mm rings (0.92 +/- 2.00 D) versus 18-mm rings in line with the rectus (3.02 +/- 1.49 D; p = 0.02), with 18-mm rings in line with the rectus muscles (3.02 +/- 1.46 D) versus between the muscles (1.37 +/- 1.14 D; p = 0.03), and all measurements with the 14-mm ring (1.0 +/- 1.49 D) versus the 18-mm ring (2.14 +/- 1.51 D; p = 0.04.). CONCLUSIONS: Significant IA can occur with placement of fixation rings, especially when suture placement is near the insertions of the rectus muscles.

Astigmatism↗
PubMed2000

Absence of odd-even parity behavior for Kondo resonances in quantum dots.

Zero-bias anomalies in the conductance through quantum dots have recently been identified as Kondo resonances and explained in terms of the Anderson impurity model. The effect requires a degeneracy and it has been proposed that this should occur for odd electron numbers on the dot. In this paper we present data, obtained on a split-gate quantum dot with a small number of electrons, which are in disagreement with this expectation. The mapping of the Anderson model on the quantum dot is discussed in terms of an interacting N electron system demonstrating why this expectation can fail.

Journal Article↗
PubMed2000

Expression of matrix metalloproteinase-2 in glial and neuronal tumor cell lines: inverse correlation with proliferation rate.

The expression of matrix metalloproteinases (MMPs) has been found to be positively correlated to the degree of malignancy in gliomas, indicating that poorly differentiated brain tumor cells produce more MMPs than differentiated ones. We determined the production of active MMP-2 in five glial (U138MG, U373MG, A172, C6, GOS-3), two neuronal (SK-N-SH, SK-N-MC), and two pluripotent cell lines with facultative neuronal and glial differentiation (P19 and NT2) by gelatin zymography. The MMP-2 activity profiles were compared to the proliferative activities of the cell lines. MMP-2 expression varied from barely existent (P19 cells) to strong (U138MG and SK-N-SH). Interestingly, for the cell lines with high MMP-2 expression levels, low proliferative activities were recorded, and vice versa. Retinoic acid induced neuronal differentiation and a reduction of proliferation of P19 cells; the differentiated cells produced significantly more MMP-2 than untreated cells. Upon confluency, GOS-3 cells showed reduced proliferation, but increased MMP expression. Thus, proliferative activity was inversely correlated to MMP-2 expression in the tumor cell lines analyzed.

Brain Neoplasms↗