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Biomedical subjects

R Maas

Publications and source records attributed to R Maas.

At least 73 records · Page 4Linked to original sources

Regulation of Msx-1, Msx-2, Bmp-2 and Bmp-4 during foetal and postnatal mammary gland development.

Expression of the Msx-1 and Msx-2 homeobox genes have been shown to be coordinately regulated with the Bmp-2 and Bmp-4 ligands in a variety of developing tissues. Here we report that transcripts from all four genes are developmentally regulated during both foetal and postnatal mammary gland development. The location and time-course of the Bmp and Msx expression point to a role for Msx and Bmp gene products in the control of epithelial-mesenchymal interactions. Expression of Msx-2, but not Msx-1, Bmp-2 or Bmp-4 was decreased following ovariectomy, while expression of the human Msx-2 homologue was regulated by 17beta-oestradiol in the MCF-7 breast cancer cell line. The regulation of Msx-2 expression by oestrogen raises the possibility that hormonal regulation of mammary development is mediated through the control of epithelial-mesenchymal interactions.

Animals↗

[MRI of musculature in myalgia--indications and image findings].

This paper deals with the question of the clinical circumstances in which MRI seems to be promising in patients with myalgia. 241 patients suffering from myalgic symptoms were examined by axial scans of the muscular system with T1w and STIR-sequences. All patients underwent a complete neuromuscular examination, which included an MRI guided muscle-biopsy of 203 patients. The images were retrospectively analysed as to the typical characteristics of differential diagnosis. In cases of idiopathic or bacterial/viral induced myositis, primary vasculitis, and rhabdomyolysis, edematous changes of the muscles could always be found. Abscesses were only found in bacterial myositis. In cases of poly- and dermatomyositis as well as inclusion-body-myositis, MRI showed a uniform distribution pattern with emphasis on the quadriceps muscles. In contrast to other neuromuscular diseases in bacterial induced myositis, focal myositis, and rhabdomyolysis a strong contrast agent enhancement was seen. All patients with myalgic syndromes without any other additional neuropathological findings and 86% of the patients suffering from polymyalgia rheumatica had normal MR-findings. MRI allows a correct exclusion of an inflammatory, tumorous, or rhabdomyolitic cause of a myalgia and leads to pathognomonic findings for these diseases. Diseases belonging to the group of endocrine, toxic, or metabolic myopathies might be normal in MRI. We believe that an indication for MRI is given when muscular pain is associated with additional neuromuscular symptoms, especially if an inflammatory origin of the myalgia is suspected or if a muscle biopsy is planned.

Adolescent↗

[Secondary osteosarcoma in Paget disease].

The incidence of Paget's disease in Germany is about 3%. Up to 10% of all affected individuals develop secondary osteosarcomas in the affected bone areas. Compared to primary osteosarcoma patients with Paget's sarcoma differ in regard to age, tumor localisation, therapy, prognosis and radiological symptoms. The following case report describes clinical features, therapy and the typical radiological findings.

Antineoplastic Combined Chemotherapy Protocols↗

[Tuberculous pseudotumor of the omentum].

The abdomen is one of the most common extrathoracic manifestation sites for tuberculosis. The constellation of ascites, fatigue, fever, weight loss and ileus in younger patients should lead to the diagnosis, particularly in times when immunosuppression appears more frequently associated with AIDS. Using modern imaging techniques like CT and ultrasound and in combination with interventional procedures (guided paracentesis or biopsy) the number of diagnostic laparotomies and laparoscopies, like in the case presented could be reduced. In this context the radiologist should include tuberculosis in the differential diagnosis.

Adult↗

[Osteoblastoma simulating osteosarcoma of the petrous bone].

The case of a 25-year-old patient with a rare osteoblastoma-like osteosarcoma of the pars petrosa is discussed. CT scans (thin layers) showed a lytic, the skull basis-resorbing tumor with slight matrix calcification. MRI demonstrated a mainly signal intense tumor in T1-weighted images with less signal intensity at its borders which showed an enhancing peripheral zone after use of a gadolinium-containing medium.

Adult↗

Sexually dimorphic sterility phenotypes in Hoxa10-deficient mice.

The Abdominal B (AbdB) genes constitute a distinct subfamily of homeobox genes that exhibit posterior domains of expression, including the genital imaginal disc in Drosophila and the developing urogenital system in vertebrates. We have mutated the AbdB gene Hoxa10 in mice. We report here that homozygotes are fully viable and show an anterior homeotic transformation of lumbar vertebrae. All male homozygotes manifest bilateral cryptorchidism resulting in severe defects in spermatogenesis and increasing sterility with age. Female homozygotes ovulate normally, but about 80% are sterile because of death of embryos between days 2.5 and 3.5 post coitum. This coincides spatially and temporally with expression of maternal Hoxa10 in distal oviductal and uterine epithelium. These results indicate a role for AbdB Hox genes in male and female fertility and suggest that maternal Hoxa10 is required to regulate the expression of a factor that affects the viability of preimplantation embryos.

Animals↗

Calcifying solitary bone cyst: morphological aspects and differential diagnosis of sclerotic bone tumours.

Fourteen solitary bone cysts (SBC) with large areas of calcification (7 in the femur, 4 in the humerus, and 1 each in the pelvis, the tibia and the scapula) and 402 SBC from the Hamburg Bone Tumour Registry were reviewed in a retrospective study. The analysis was done with emphasis on the clinical, radiological and histological appearances. SBC are well known lesions, but calcifying SBC (CSBC) or extensive extragnathic cement-like bone productions are rare. The clinical and radiological differential diagnosis includes fibrous dysplasia, chondroma, low-grade chondrosarcoma and osteosarcoma. Bits of this cement-like matrix are detectable within the wall of approximately 70% (278 of 402) of SBC from the registry. CSBC are changed SBC. The intraoperative confirmation of the diagnosis on a frozen section by the bone pathologist leads to curettage which is currently the most common therapy in this benign lesion.

Adolescent↗

[Phlebography of the upper extremity. I. The technic and findings in 230 studies].

We report on 230 phlebographic examinations in the shoulder arm region which were performed by conventional X-ray technique and/or digital subtraction angiography (DSA). The detailed method of examination as well as anatomical variants of the vessels are explained. The group of patients was analysed concerning its composition and was subdivided with regard to clinically relevant diagnoses. Contrary to statements in the literature, the number of pathological findings in men or women were equal. The main age was between 40 and 50 years. The brachial vein was found to be doubled so often that this might be accepted as a normal situation. Phlebographic examinations were performed in the right arm twice as often as in the left one. 172 primary examinations, more than 60% showed a pathological result.

Adolescent↗

Oral bioavailability of sulphonamides in ruminants: a comparison between sulphamethoxazole, sulphatroxazole, and sulphamerazine, using the dwarf goat as animal model.

The various sulphonamides show marked differences in disposition characteristics after administration to ruminants. For use in combination with a diaminopyrimidine derivative such as trimethoprim or baquiloprim, it is essential that a sulphonamide has similar pharmacokinetic properties in order to obtain optimal synergy. In the present study the pharmacokinetics of sulphamethoxazole, sulphatroxazole, and sulphamerazine were investigated in dwarf goats (n = 6) after IV and intraruminal administration at a dose of 30 mg/kg bodyweight. In addition, the in vitro binding of sulphamerazine to ruminal contents was studied as a possible explanation for a reduced absorption rate. Sulphamethoxazole showed the most rapid absorption after intraruminal administration (mean tmax +/- SD : 0.8 +/- 0.2h). However, the drug was rapidly eliminated from the plasma (t1/2 beta : 2.4 +/- 1.5 h) and the bioavailability was only 12.4 +/- 4.7%, most likely due to an extensive 'first-pass' effect. The bioavailability of orally administered sulphamerazine and sulphatroxazole was much higher (67.6 +/- 13.5% and 70.2 +/- 32.3%, respectively). After intraruminal administration, sulphatroxazole showed the highest plasma peak concentration (26.1 +/- 6.3 mg/l) and the longest plasma half-life (4.7 +/- 1.8h) and mean residence time (13.9 +/- 4.5 h). Sulphamerazine showed considerable binding to rumen contents in vitro. Based on its pharmacokinetic properties sulphatroxazole appears to be a suitable candidate to be used in combination with the more recently developed diaminopyrimidines such as baquiloprim.

Administration, Oral↗

D-serine deaminase is a stringent selective marker in genetic crosses.

The presence of the locus for D-serine deaminase (dsd) renders bacteria resistant to growth inhibition by D-serine and enables them to grow with D-serine as the sole nitrogen source. The two properties permit stringent selection in genetic crosses and make the D-serine deaminase gene an excellent marker, especially in the construction of strains for which the use of antibiotic resistance genes as selective markers is not allowed.

Cloning, Molecular↗

Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes.

Pax genes encode a family of developmentally regulated transcription factors that have been implicated in a number of human and murine congenital disorders, as well as in tumorigenesis (Gruss, P., and Walther, C. (1992) Cell 69, 719-722; Hill, R., and van Heyningen, V. (1992) Trends Genet. 8, 119-120; Chalepakis, G., Tremblay, P., and Gruss, P. (1992) J. Cell Sci. Suppl. 16, 61-67; Maulbecker, C. C., and Gruss, P. (1993) EMBO J. 12, 2361-2367; Walther, C., Guenet, J. L., Simon, D., Deutsch, U., Jostes, B., Goulding, M. D., Plachov, D., Balling, R., and Gruss, P. (1991) Genomics 11, 424-434; Barr, R. G., Galili, N., Holick, J., Biegel, J. A., Rovera, G., and Emanuel, B. S. (1993) Nature Genet. 3, 113-117). These genes are defined by the presence of an evolutionarily conserved DNA binding domain, termed the paired domain. The structure and the DNA binding characteristics of the paired domain remain largely unknown. We have utilized repetitive rounds of a polymerase chain reaction-based selection method to identify the optimal DNA binding sequences for the Pax-2 and Pax-6 paired domains. The results suggest that the paired domain family of peptides bind similar DNA sequences. Identification of this binding site has revealed an important structural clue regarding the mechanism of paired domain binding to DNA. CD and NMR structural analyses of the purified Pax-6 paired domain reveal it to be largely structureless in solution. Upon binding the recognition sequence, the complex becomes markedly less soluble and displays CD spectroscopic evidence of significant alpha-helical structure.

Animals↗

Deficient outgrowth of the ureteric bud underlies the renal agenesis phenotype in mice manifesting the limb deformity (ld) mutation.

Mice which are homozygous for the limb deformity (ld) mutation also manifest an incompletely penetrant unilateral or bilateral renal agenesis phenotype. Intercross experiments suggest that the differences in penetrance of the renal agenesis phenotype between homozygous mice with different ld alleles are due to intrinsic differences in the strength of the mutant alleles or to one or more closely linked modifying loci, and not to generalized differences in genetic background. Analysis of ld/ld embryos between embryonic days 11-13 reveals delayed outgrowth or complete absence of the ureteric bud, the inducer of metanephric mesenchyme. Since explants of ld/ld metanephric mesenchyme differentiate in culture when apposed to embryonic spinal cord, we conclude that deficient ureteric bud outgrowth is the morphologic basis for renal agenesis in ld/ld mice. However, since ld transcripts can be detected in both metanephric mesenchyme and ureteric bud, the molecular basis for the deficiency in ureteric bud outgrowth could reside in either component.

Alleles↗

Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development.

The Msx1 homeobox gene is expressed at diverse sites of epithelial-mesenchymal interaction during vertebrate embryogenesis, and has been implicated in signalling processes between tissue layers. To determine the phenotypic consequences of its deficiency, we prepared mice lacking Msx1 function. All Msx1- homozygotes manifest a cleft secondary palate, a deficiency of alveolar mandible and maxilla and a failure of tooth development. These mice also exhibit abnormalities of the nasal, frontal and parietal bones, and of the malleus in the middle ear. Msx1 thus has a critical role in mediating epithelial-mesenchymal interactions during craniofacial bone and tooth development. The Msx1-/Msx1- phenotype is similar to human cleft palate, and provides a genetic model for cleft palate and oligodontia in which the defective gene is known.

Abnormalities, Multiple↗

[Dysbaric osteonecrosis in professional divers: MRT as a screening method?].

20 male professional divers underwent a total of 68 MR examinations of the shoulder, hip and knee joints with follow-up for 16 joint regions. Cerebral MR was performed additionally in 16 divers. 11 patients showed signal alterations of bone marrow which suggested bone infarct in 9 cases. One patient had unifocal demyelinisation of the left hemisphere. In conclusion, MR showed high sensitivity in detecting dysbaric osteonecrosis.

Adult↗

[Computed tomographic studies following segmental liver transplantation from living donors: the anatomy and pathological findings].

A lack of suitable pediatric donors and significantly better results than conventional transplantation have contributed to the steady increase in the number of segmental liver transplants from living donors throughout the world. This article describes the diagnostic impact of axial CT scans following transplantation in a retrospective evaluation of 18 CT examinations of 10 children with an average age of two years. Both spiral and conventional CT scans permit precise visualization of the postoperative anatomy of the upper abdomen that is more distinct than the images provided by ultrasonic scans. Thus, CT scans better facilitate detection of pathological findings. In 60% of the patients (67% of the examinations), the CT scan permitted a definite diagnosis; in the remaining cases, no morphological correlate to the clinical and laboratory findings was detected. In addition to traditional ultrasonic scanning, computed tomography represents a further noninvasive imaging technique for postoperative diagnostics following segmental liver transplants from living donors.

Child↗

Visualization of neonatal anatomy and pathology with a new computerized three-dimensional model as a basis for teaching, diagnosis and therapy.

A new computerized three-dimensional (3D) volume model derived from a post-mortem MRI series of the chest and abdomen of a human newborn allows interactive dissection by removing, adding organs or cutting in unlimited directions. The advanced technique of real volume visualization instead of using contours allows one to study the normal and pathological anatomy of the neonate. Anatomical details of the pleural, pericardial and peritoneal cavities and of abdominal veins are demonstrated. Compared to conventional methods, the advantages of this model for teaching and as a basis for diagnostic imaging and therapeutic procedures are evident.

Abdomen↗

[Liver regeneration in man. A prospective CT-volumetric study].

To get reliable data on human liver regeneration we performed CT volumetry in 25 patients who underwent partial hepatectomy for benign and malignant liver tumours preoperatively and at least one year postoperatively in regular intervals in a prospective study. All patients received standardised CT-scans preoperatively and two weeks, 3, 6 and 12 months post-operatively. The resected specimen size was determined by water displacement. We were able to demonstrate human liver regeneration. Contrary to the well-known animal model the amount of regeneration in humans is less and regeneration takes a longer time. We did not find any statistical correlation to extent of resection, age of patients and other parameters. On the contrary, the human liver seems to regenerate until a certain relationship of liver volume and body-surface area is reached: 0.8 l/m2.

Adult↗

[The diagnosis of inflammatory muscular and vascular diseases using MRT with STIR sequences].

The role of MRT in the prebiopsy diagnosis of muscular and vascular inflammatory conditions was evaluated prospectively and an optimal method of examination was investigated. 92 patients with a suspected diagnosis of myositis (60 cases) or vasculitis (32 cases) were examined, in each case two extremities were studied using transverse T1 and T2 weighted SE sequences and double echo STIR sequences on a 0.5 Tesla (56 patients) or 1.5 Tesla magnet (36 patients; T5/S15 Gyroscan, Philips). The site of the biopsy depended on the MRT findings. In 41 patients the suspected diagnosis was confirmed histologically, in two patients an infective myositis was diagnosed on clinical grounds despite negative histology. MRT demonstrated muscle oedema in 86% of patients. There were negative findings after immuno-suppressive therapy (two patients), in focal myositis (3 out of 4 patients) and in one of 7 patients with untreated vasculitis. Amongst 49 patients in whom the suspected diagnosis could not be confirmed there was muscle oedema in 11 cases (9 neuropathies out of 22, two myopathies out of 10). Oedema indicated inflammatory muscular or vascular disease with a sensitivity of 97% (except in treated patients and for focal myositis). The number of false negative biopsies can be greatly reduced by the use of MRT.

Adult↗