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  • 1
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    Berkeley, Calif. : Periodicals Archive Online (PAO)
    Journal of the history of philosophy. 21:3 (1983:July) 339 
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 58 (1980), S. 43-45 
    ISSN: 1432-1440
    Keywords: Glucocorticoid-Rezeptoren ; Leukämien ; Sensitivität ; Glucocorticoid receptors ; Leukemias ; Sensitivity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Determination of steroid receptors has been used to predict steroid sensitivity in various neoplasias. In an attempt to investigate its applicability in human leukemias we have studied glucocorticoid receptors in the leukemic cells from 23 patients with various hematologic neoplasias and in the lymphocytes from 18 normal donors. Specific glucocorticoid binding in intact cells was determined by a whole cell competitive binding assay. Normal lymphocytes have about 4,611 specific binding sites per cell. The blasts from 9 patients with acute myelogenous leukemias (AML) have strongly varying high levels of specific binding sites, ranging from 4,817 to 15,416 per cell. Of the 13 patients with chronic lymphocytic leukemia (CLL), 5 have received glucocorticoid treatment for years and were clinically resistant to glucocorticoid. Their lymphocytes have lower specific binding sites (range: 2,047 to 3,999) than the other CLL cases which were newly diagnosed (range: 3,734 to 11,020). Our results suggest that determination of glucocorticoid receptors might be of value in predicting clinical responsiveness in leukemias.
    Notes: Zusammenfassung Bei einigen steroid-sensitiven Neoplasien ist die Bestimmung von Steroid-Rezeptoren für die Voraussage einer Ansprechbarkeit auf die Hormontherapie von Bedeutung. Um die Anwendung dieser Methode auch bei Leukämien nachzuprüfen, haben wir die Glucocorticoid-Rezeptoren in Leukämiezellen von 23 Patienten und in Lymphozyten von 18 Kontrollpersonen untersucht. Die Bestimmung erfolgte nach einer Methode nach Baxter und Tomkins. Normallymphozyten haben circa 4611 spezifische Bindungsstellen pro Zelle. Der Anzahl der Steroid-Rezeptoren in den Blasten von 9 Patienten mit AML schwankten stark (Bereich: 4817–15416 Stellen/Zelle). Fünf von 13 Patienten mit CLL wurden seit Jahren mit Glucocorticoid behandelt und sprachen zur Zeit der Rezeptoren-Bestimmung auf die Therapie nicht mehr an. Die Anzahl der Bindungsstellen der Lymphozyten dieser Patienten war im Mittel niedriger (Bereich: 2047–3999), als bei den Patienten, die neu diagnostiziert worden waren (Bereich: 3734–11020). Unsere Ergebnisse weisen darauf hin, daß die Bestimmung von Steroid-Rezeptoren für die Planung einer Therapie mit Glucocorticoiden von Bedeutung sein könnte.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Annals of hematology 42 (1981), S. 183-190 
    ISSN: 1432-0584
    Keywords: Glucocorticoid-Rezeptoren ; Sensitivität ; Leukämie ; Glucocorticoid receptors ; Sensitivity ; Leukemias
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary In an attempt to investigate the utility of glucocorticoid receptor determination to predict clinical responsiveness in human leukemias we have studied glucocorticoid receptors in the leukemic cells from 46 patients and in the lymphocytes from 18 normal donors. In the normal lymphocytes there were 3,875 (Median) specific binding sites per cell. The blasts from 17 patients with ANLL had on average higher levels of binding sites per cell (Median = 7,250, range: 0 to 15,295) than the other leukemias. Of the 15 patients with CLL, six had received glucocorticoid treatment for 3 to 5 years. Their lymphocytes had lower number of receptors (Median = 2,000) than the other cases which were newly diagnosed (Median = 4,500). Four patients had ALL/AUL, three patients had blast crisis as terminal phase of CML, and seven had leukemic Non-Hodgkin lymphomas (Median = 3,500 sites/cell). In 24 patients we have also studied the in vitro sensitivity of the leukemic cells to dexamethasone. There was no marked correlation between glucocorticoid receptor levels and in vitro sensitivity. An attempt to correlate receptor levels with clinical responsiveness demonstrated that glucocorticoid receptor determination might be of value in patients with lymphoid malignancies but probably not in patients with other leukemias.
    Notes: Zusammenfassung Zur Prüfung der Frage, ob eine positive Korrelation zwischen dem Steroid-Rezeptorgehalt von Leukämiezellen und dem Erfolg einer Steroid-Therapie besteht, haben wir Glucocorticoid-Rezeptoren bei Leukämien und Lymphomen untersucht. Die Bestimmung erfolgte nach Baxter und Tomkins. Untersucht wurden 46 Patienten mit Leukämien und 18 Kontrollpersonen. Normale Lymphozyten haben durchschnittlich 3875 spezifische Bindungsstellen pro Zelle. Die Anzahl der Glucocorticoid-Rezeptoren in den Blasten von 17 Patienten mit akuter myeloischer Leukämie zeigten starke Schwankungen (Bereich 0 bis 15295 Rezeptoren pro Zelle). Sechs von 15 Patienten mit chronischer lymphatischer Leukämie wurden seit Jahren mit Glucocorticoiden behandelt und sprachen zur Zeit der Steroid-Rezeptor-Bestimmung auf diese Therapie nicht mehr an. Die Anzahl der Steroid-Bindungsstellen der Lymphozyten dieser Patienten erwies sich im Mittel als niedriger (2000 je Zelle) als bei den unbehandelten Patienten (4500 je Zelle). Bei 24 Patienten haben wir auch die In-Vitro-Sensitivität der Leukämiezellen gegenüber Dexamethason untersucht. Es konnte keine eindeutige Korrelation zwischen Rezeptorengehalt und In-Vitro-Sensitivität festgestellt werden. Weitere Analysen mit klinischen Daten weisen darauf hin, da\ die Bestimmung von Glucocorticoid-Rezeptoren für die Planung und Durchführung einer Therapie bei den lymphatischen Leukämien Bedeutung erlangen kann, jedoch wahrscheinlich nicht bei den myeloischen Leukämien.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 62 (1982), S. 180-180 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Eleven patients with the so-called Cat Eye syndrome are reported including a more detailed description of the original cases reported by Schnid and Fraccaro. All cases had, in addition to a normal karyotype, a small extra G-like chromosome which appeared to be an isochromosome for the juxtacentromeric region (pter→q11) of an acrocentric chromosome. None were mosaics. Clinical findings and further cytogenetic studies in a few cases suggest that these markers probably derive from a No. 22 chromosome. Characteristic features of the Cat Eye syndrome in these 11 patients and those reviewed from the literature are: ocular coloboma which may involve the iris, choroid and/or optic nerve, preauricular skin tags and/or pits which are probably the most consistent feature, congenital heart defect, anal atresia with a fistula, renal malformations such as unilateral absence, unilateral or bilateral hypoplasia, and cystic dysplasia, and antimongoloid position of eyes. Intelligence is usually low-normal, although moderate retardation is also seen. There is great variability in the clinical findings ranging from near normal to lethal malformations. Less frequent, but also characteristic findings are: microphthalmia, microtia with atresia of the external auditory canal, intrahepatic or extrahepatic biliary atresia and malrotation of the gut. Direct transmission of the marker from one generation to the other was observed in both sexes. In those families, there was considerable variability in the clinical findings between affected family members. Theses cases show that there is a bias of ascertainment for patients who have the more striking malformation, especially those with ocular coloboma and anal atresia, a combination which appears to be present in only a minority of cases. Many mildly affected patients probably remain undetected. It is proposed that the term Cat Eye syndrome should be applied only to cases with trisomy or tetrasomy of not more than 22pter→q11 and without additional duplication or deletion of another autosomal segment.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Oranizational forms and the current status of genetic counseling within the health care system of 15 European countries were evaluated by questionnaire and at a symposium, with individuals present from Austria, Belgium, Czechoslovakia, Denmark, the Federal Republic of Germany, the German Democratic Republic, Finland, France, Hungary, Italy, the Netherlands, Norway, Switzerland, the United Kingdom, and the Soviet Union. In spite of wide differences between these countries, certain similarities with respect to the delivery of genetic counseling services could be observed: (i) most genetic counseling is done within university institutions or closely linked to it; (ii) governmental support of genetic counseling is developing slowly, and genetic counseling is usually not yet fully integrated into the health care system; (iii) there is lack of qualified personnel; (iv) no guide lines for formal education have been developed, but a postgraduate training period of no less than four years is considered a minimum; (v) without appropriate support, genetic counseling is a burden for research in human genetics; yet, a strict separation of genetic counseling and research activities is not recommended; (vi) on the average, a team providing genetic counseling for about 1–2 million people should consist of 3–4 physicians, 5–10 technicians, 2–3 secretaries, and other supportive personnel.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 56 (1981), S. 249-262 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A syndrome due to 3:1 meiotic segregation of balanced 11/22 translocation is defined from nine personally observed patients and 22 cases from the literature with apparently the same aberration. Frequent findings include a characteristic face with deepset eyes, flat nose, prominent upper lip, receding mandible and preauricular pits or tags, male genital hypoplasia, anal atresia or other anomalies of the anus, cleft palate, and congenital heart defect. Less frequent are severe reduction of the auricles, an additional pair of ribs, and hypoplasia of the diaphragm. Perinatal mortality is high. Growth is usually and psychomotor development is invariably and severely delayed. Balanced 11/22 translocations are apparently disproportionally frequent; as the balanced rearrangement is not easy to detect, it is important to be aware of it at the family investigation of cases with extra chromosomes similar to a No.22 or 22q-.The unbalanced products are most probably trisomic for both a segment of 22 (22q-) and a distal segment of 11q; the exact determination of the breakpoints is not possible at present due to the similar banding characteristics of the two segments involved in the translocation.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Some twenty cases of dispermic chimeras with the karyotype 46,XX/46,XY, discovered because of gonadal dysplasias or a true hermaphroditism, have been reported. This is a report of a phenotypically normal man with 46,XX/46,XY chimerism in whom a prepubertal finding of positive X-chromatin was interpreted as Klinefelter syndrome. The diagnosis was revised 11 years later when the family doctor, who doubted the earlier diagnosis because of the patient's normal-sized testes, sent him to an outpatient clinic. The young man was 23 years old, athletic (74kg, 180cm), with normal body proportions, normal sexual hair distribution, normal libido and potency, normal endocrine parameters, and a normal spermiogram. The karyotype revealed an XX/XY mosaic in a proportion of 1:2. An identical set of maternal markers (Q- and C-banding) was present in male and female cells. Differences were found with respect to two paternal markers. Furthermore, blood, serum, and red cell enzyme groups in five systems showed two phenotypes, again with duality of paternal origin. It is concluded that a positive X-chromatin in prepuperty, especially in the absence of supporting clinical features, must be followed by a karyotype study.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    European archives of psychiatry and clinical neuroscience 231 (1982), S. 269-281 
    ISSN: 1433-8491
    Keywords: Clinical diagnosis ; Computer diagnosis ; Diagnostic agreement ; Klinische Diagnose ; Computer-Diagnose ; Diagnostische Übereinstimmung
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Mit der deutschen Version des PSE (Present State Examination) wurden 100 unausgewählte, neuaufgenommene psychiatrische Klinik-patienten von einem Psychiater interviewt, mit einem zweiten Psychiater als Beobachter. Die Übereinstimmung der klinischen Diagnosen der beiden Psychiater lag wesentlich höher als die Übereinstimmung zwischen klinischen Diagnosen einerseits und den CATEGO-Diagnosen andererseits (CATEGO ist ein computerisiertes System, das auf der Information von PSE beruht). Die mangelnde Übereinstimmung wird diskutiert.
    Notes: Summary An unselected series of 100 psychiatric inpatient admissions were interviewed at admission by a psychiatrist using the German version of the PSE (Present State Examination), with a second psychiatrist as an observer. The diagnostic agreement between the two project psychiatrists was considerably higher than the agreement between clinicians and CATEGO, a computerised diagnostic system based on PSE data. The disagreements are discussed.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Fresenius' Zeitschrift für analytische Chemie 318 (1984), S. 296-297 
    ISSN: 1618-2650
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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