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  • 1
    ISSN: 1432-0584
    Keywords: Hemoglobin Cocody ; Denaturing gradient gel electrophoresis ; β-Globin protein characterization
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Over the past few years, the methodologies used for the identification of hemoglobin A variants have been greatly improved. Both the protein- and DNA-based strategies have their own advantages and limitations. In this report we illustrate the use of both assays for the characterization of a hemoglobin Cocody variant in a woman of Spanish descent. After evaluating the mobility value matrix of the abnormal hemoglobin, the amino acid transition was determined by HPLC and microsequencing of the protein. Theβ 21 Asp was shown to be substituted by an Asn. At the DNA level, the only nucleotide replacement responsible for this amino acid substitution is GAT- → AAT at codon 21. The analysis of theβ-globin gene by denaturing gradient gel electrophoresis (DGGE) method showed that the mutation was situated in a fragment including exon 1. The hemoglobin variant was then identified to be hemoglobin Cocody by DNA sequencing of this fragment.
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Anatomy and embryology 151 (1977), S. 241-265 
    ISSN: 1432-0568
    Keywords: Scanning E.M. ; Third ventricle ; Neurohypophysis ; Rat
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The surface of the recessus infundibularis of the third ventricle has been studied with the scanning and transmission technique in normal and experimental material. Surface specializations such as microvilli, craters and areas of discontinuous lining are described. Supraependymal cells and fibres have been found; some of these cells form wide-meshed networks. The supraependymal fibres may be regular or varicose; the former seem to perforate the ependyma. With the transmission electron microscope the supraependymal cells are divided into three categories: nerve cells, lymphocytes and “dense cells”. Two fibre populations are distinguished: thin profiles (nerve fibres) and thick profiles (nerve terminals). Axosomatic and axoaxonic synapses are described. Synapses between supraependymal fibres and ependyma cells have also been found.
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Anatomy and embryology 168 (1983), S. 371-393 
    ISSN: 1432-0568
    Keywords: Supraependymal cell clusters ; Median eminence ; Ventricular system ; Hypothalamus ; rat-GFA staining
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The fine structure of supraependymal cell clusters of the median eminence was studied with TEM. The cluster cells were identified on the basis of ultrastructure and histochemical determination of glial fibrillar acidic protein (GFA). The phagocytic properties were also studied by means of intraventricular injections of HRP. Neurons, neuroglia cells and degenerating ependyma- and glial cells were found. The extrusion of degenerating infundibular elements into the ventricle is a constant phenomenon but its precise localization and intensity are variable. The close proximity of the clusters to capillary loops is stressed. Because of the broken ependyma at the neck of the cluster, the permeability of the infundibular lining for HRP is increased. Clusters may be seen as sites lacking a brain-CSF barrier.
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Cellular and molecular life sciences 37 (1981), S. 1150-1152 
    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The previously detected modifier variability acting on the expression of the Bare (Ba) locus inDrosophila subobscura is demonstrated to be due to polygenes situated along the chromosome O. From crosses between isogenic lines of high and low modifier effect we ascertained the presence of approximately 5 modifier loci.
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  • 5
    ISSN: 0942-0940
    Keywords: Craniosynostosis ; malformations ; neuropsychological tests
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In a study of patients suffering from Craniosynostosis various pre- and post-operative parameters were identified that may affect subsequent intellectual capacity. In particular, facial malformations appeared to be closely correlated with impaired intellectual development. Other parameters included measurement of cranial circumference and volume; their subaverage values correlated with slight mental insufficiency. However, in the pre-operative period they cannot be used as prognostic indices because these relations were statistically not significant. The remaining parameters (neurological and electroencephalographic findings, post-operative re-ossification of the skull, pre-operative digital impressions, CT findings) did not seem to be related to intellectual development.
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  • 6
    ISSN: 0942-0940
    Keywords: Cavernous haemangioma ; cavernoma ; cystic tumour of the CNS ; computed tomography of cavernomas ; vascular hamartoma ; seizures in cerebral cavernomas
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We present our clinical experience and the results of surgical management with 25 cavernomas of the CNS, treated in our hospital in the last 10 years. The location of the lesion assessed by clinical and CT scan examinations, proved to be the most significative factor determining the prognosis of cavernomas of the CNS, after surgical removal. The symptoms started in most of the cases in the third decade of life. 19 cases were located in the cerebral hemispheres and produced three well defined clinical syndromes: 1) Irritative syndrome (seizures) present in 70% of the cases. 2) Space-occupying lesion syndrome (20%) and 3) haemorrhagic syndrome (10%). The remaining six cases were located within the basal ganglia, brainstem, pineal region, cerebellum and spinal cord, showing a progressive course. CT scan studies were performed on 24 cases. The characteristic image of a cavernoma is represented by a moderately hyperdense nodule with discreet contrast uptake. Calcification was observed in and around the lesions in 33% of the cases. Perilesional hypodensities suggestive of brain tissue atrophy were noted in 22% of the CT scans. On the other hand, 12% of cerebral hemisphere cavernomas showed atypical CT scan images that suggested an erroneous diagnosis of cystic gliomas. Radical surgical removal was performed in all cases. The postoperative results varied according to the location of the lesions. Complete recovery was obtained with cerebral hemisphere cavernomas presenting with a progressive history suggesting tumour or a haemorrhagic syndrome. 85% of the cases presenting with seizures, were symptom-free and taking no anticonvulsants 1 year after surgery. In deeply placed cavernomas (basal ganglia and brainstem) the surgical results were poor. In the latter cases surgery has to be carefully evaluated when a mode of treatment is to be considered in patients whose CT scan data strongly suggest a diagnosis of cavernoma.
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  • 7
    ISSN: 0942-0940
    Keywords: Cerebellar haemorrhage ; computerized tomography ; posterior fossa ; haematoma resolution ; hydrocephalus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We have studied 15 cases of spontaneous intracerebellar haematomas in 9 males and 6 females. A significant correlation between the clinical presentation and the CT scan features of benign and fatal haemorrhages of the cerebellum is presented. Diagnostic computerized tomographic studies were performed in a mean interval of 31 hours after the initial symptoms. 60% were diagnosed and treated in less than 24 hours; 11 patients had haematomas larger than 3 cm, and 5 (45%) of these cases died with evidence of irreversible brain-stem damage. Twelve (80%) showed compression of the fourth ventricle, 9 (60%) obliteration of the brainstem cisterns and 8 (53%) ventricular dilatation. 8 cases were treated with surgery; 50% of them showed neurological improvement, including two cases with signs of brain-stem compression. 7 patients who were treated conservatively were followed closely with repeated CT scans, which showed that resolution of the mass effect and isodensity of the haematomas occurred within 9 to 15 days, with a mean of 11 days, after the initial CT scan. An increased mortality was observed with haematomas larger than 3cm (73%), hydrocephalus (45%) and intraventricular haemorrhage (40%). Smaller haematomas without CT scan evidence of obliteration of the brain-stem cisterns or hydrocephalus had a better outcome.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-0827
    Keywords: Key words: Human osteoblastic cells — Skeletal site — Aging.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract. Bone loss with aging may be due, at least in part, to inadequate bone formation. Moreover, the process of bone aging is known to follow a different pattern throughout the skeleton. In this study, we examined the cell proliferation rate (area under the cell growth curve, AUC) and the secretion of C-terminal type I procollagen (PICP), alkaline phosphatase (ALP), and osteocalcin (OC) in primary cultures of osteoblastic cells from human trabecular bone. Osteoblastic cells were obtained for 168 donors (100 women and 68 men). Ninety-eight bone samples were obtained from subjects undergoing knee arthroplastia, 52 aged 50–70 years (64 ± 5) and 46 over age 70 (73 ± 2). Another 70 bone samples were obtained from subjects undergoing hip arthroplastia; 51 were 50–70 years old (64 ± 4) and 19 were over 70 (75 ± 5). Osteoblastic cells from the older donors had a lower proliferation rate and OC secretion than those from younger subjects. However, ALP secretion was higher in the former subjects, whereas PICP secretion was unchanged. Osteoblastic cells from hip had a lower proliferation rate than those from knee. PICP secretion was also lower and ALP secretion was higher in the former cells. In age-matched cell cultures, osteoblastic cells from the knee had higher proliferation rate and PICP secretion than osteoblastic cells from the hip. However, ALP secretion was lower in knee osteoblastic cells than those from hip only in the younger group. With aging, ALP secretion was found to increase in knee osteoblactic cells, whereas OC secretion decreased in osteoblastic cell cultures from the hip. Our findings suggest that bone loss with aging may be accounted for, at least in part, by a decreased osteoblastic cell proliferation and an increased osteoblastic maturation. In addition, our data indicate that these changes with aging do not occur similarly at different skeletal sites.
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  • 9
    ISSN: 1432-0843
    Keywords: Key words Metastatic breast cancer ; Vinorelbine ; Ifosfamide
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Forty-six patients were included in a phase II study to evaluate the response rate and toxicity of a combination of ifosfamide and vinorelbine in metastatic breast cancer patients previously treated with one or more regimens of chemotherapy. Treatment consisted of ifosfamide 1.6 g/m2 IV days 1–3 (with mesna) and vinorelbine 25 mg/m2 IV days 1 and 8, every 3 weeks up to 6 cycles. The median age was 55 years (range 40–76), the World Health Organization (WHO) performance status was 0–1 in 93% of the patients and 2 in the remaining 7%. In all, 43% had received two or more previous lines of chemotherapy, and 91% had been treated with anthracyclines. Forty-four patients were evaluable for response, and all patients for toxicity. The overall response rate was 36.4% [95% confidence interval (CI) 22.4–52.2]. Stabilization was observed in 20.4% and progression in 43.2%. The median time to progression was 25 weeks (95% CI 14–36). Median relative dose intensity (=actual received dose intensity/planned dose intensity) was 0.99 for ifosfamide and 0.80 for vinorelbine. The main toxicity was hematological, with 63% of the patients experiencing grade 3–4 neutropenia. With a moderate toxicity, this is an active regimen that may be taken into consideration in pretreated metastatic breast cancer patients when further chemotherapy is indicated.
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  • 10
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We present a family, identified through a girl with “Cri-du-chat syndrome”, in which two different types of recombinants exist [del(5)(qter→p14:) and dup(5)(p13)]. They are due to a 5p paracentric inversion of maternal origin [inv(5) (pter p13)]. We discuss the relationship between the breakpoints and segregation of the inversion carrier, as well as the origin and the identification of the recombinants.
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