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61.
BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). CASES: This syndrome has been described in 21 patients from 16 different families. Four cases are from Turkey and have been presented by Sayli and Gül. The purpose of our study is to document the cases from Turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. OBSERVATIONS: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. Optic atrophy was present in 1 of our cases and in 5 previous cases. Glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: Optic atrophy is not a constant finding in GAPO syndrome. Glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.  相似文献   
62.
Purpose. A QSAR study based on electrotopological state (E-state) indices was conducted for a series of flavone HIV-1 integrase inhibitors to guide drug design. Methods. E-state indices formulated to encode electronic and topological information for each skeletal atom in a molecule (Kier and Hall Pharm. Res. 7:801–807 (1990)) were calculated using the Molconn-X program, and partial least squares (PLS) multivariate regression was used to derive QSAR models. Results. Predictive models with correlation coefficients (r2) of 0.98 (3 PLS components) and 0.99 (5 PLS components) and corresponding cross-validated correlation coefficients (c.v. r2) of 0.51 and 0.73, were obtained for inhibition of cleavage and integration, respectively, with one molecule omitted from the analysis. Conclusions. E-state indices at C6, C3, C5, C5, and O4 were found to be more important for prediction of activity than those for any of the other 12 flavone skeletal atoms that are common to the molecules in the data set.  相似文献   
63.
Until recently the only way to rescue masked epitopes in routinely processed surgical pathological material was enzymatic digestion. The use of heat for antigen retrieval, first by microwave irradiation, represents an important breakthrough in immunohistochemistry. With the acceptance of microwave oven pretreatment, various modified techniques and alternative heating methods have also been proposed. Wet autoclave pretreatment for tissue proteolysis is a highly reliable alternative to the microwave antigen retrieval technique. It provides uniform heating of the slides, hence an even enhancement of staining intensity in a variety of formalin-sensitive antigens, and it also offers consistent interlaboratory results. The method has been introduced in routine diagnostic immunohistochemistry for the detection of estrogen-and progesterone receptors, L26-, Ki-67- and bcl-2 antigens and variable types of cytokeratins (1/5/10/11, 8, 13, 19). Experimentally, wet autoclaving can be used very successfully for the immunophenotyping of p53 and mdm2 expression, for the detection of adhesion molecules (CD44, integrins) and some anti-inflammatory molecules (annexins), among others. It has produced a substantial improvement in the visualisation of silver-stained nucleolar organizer regionsassociated proteins (AgNORs) in routine paraffin sections and along with modified silver staining and standardized AgNOR parameters assessed by image analysis. Wet autoclaving-based AgNOR staining has been proposed by a European multicentric study group as the standardized method for AgNOR analysis in archival material.  相似文献   
64.
Formalin fixed and paraffin embedded samples from 36 squamous cell carcinomas of the larynx and the oral cavity (pT2N0M0, R0) surrounded by non-tumorous mucosa were studied immunohistochemically using a panel of four different anti-p53 antibodies (CM1, PAbl801, D07, PAb240), a monoclonal anti-mdm2 antibody and MIB1, following wet autoclave antigen retrieval. P53 immunoreactivity was detected in 11/14 laryngeal and in 9/22 oral carcinomas. All p53 positive oral, and all but one laryngeal tumors revealed mdm2 positivity as well, whereas in p53 negative tumors 4/12 and 1/3 mdm2 immunopositive cases were demonstrated, respectively. MIB1 labeling indices of the tumors ranged between 18% – 64% in p53 positive cases, and 10% – 53% in p53 negative ones. The difference was not statistically significant. Close spatial coexpression of p53, mdm2 and MIB1 immunoreactivity was observed at the invasive front of the carcinomas and in the basal and suprabasal layers of the non-tumorous epithelium in all p53 positive cases. However, the MIB1 expression was similarly increased at the invasive margins in carcinomas lacking immunohistochemically detectable p53 alterations. Our results strongly suggest that p53 overexpression does not necessarily correspond to increased rate of proliferation, but rather to mdm2 overexpression and is largely dependent on the anatomical site in case of small and localized squamous cell carcinomas of the head and neck region.  相似文献   
65.
Measurement of global left ventricular function is important in the follow-up of cardiac patients and is a good prognostic indicator in acute cardiac situations. We compared quantitative measurements of global left ventricular function made with radionuclide angiography (RNA) and contrast cardiac ventriculography (CVG) to visual semiquantitative estimates from two-dimensional echocardiographic images (2D-echo). Three hundred and thirty-nine consecutive patients who underwent RNA were assessed with 2D-echo within 3 months. In addition, 92 of these patients also underwent CVG (correlation of ejection fraction between CVG and RNA:r=0.82;P<0.0001). The RNA mean ejection fractions in the four 2D-echo groups (0=normal, 1=slightly, 2=moderate, or 3=severe reduced left ventricular function) differed markedly (P<0.0001); however, there was overlapping among the groups (2D-echo score/RNA ejection fraction: 0=57.3%±12.8%; 1=46.0%±12.9%; 2=29.6%±12.2%; and 3=24.6%±11.5%) and the difference between 2D-echo scores 2 and 3 was not significant. 2D-echo showed a good concordance in RNA classes (0=505; 1=35%–49%; 2=21%–34%; and 3=520% ejection fraction) 0 (133/166; 80%) and 3 (18/30; 60%) but low concordance in classes 1 (27/82; 33%) and 2 (21/61; 34%). For accurate assessment of global left ventricular ejection fraction, visual semiquantitative judgement of a 2D echocardiographic image is limited in comparison to CVG or RNA, especially in patients with a slight or moderate reduction in left ventricular ejection fraction.  相似文献   
66.
67.
Zusammenfassung Primär formalinfixierte Gewebsproben aus der entmarkten weißen Substanz des Stirnhirns eines Autopsiefalles von adulter MLD wurden elektronenmikroskopisch untersucht. Das intracelluläre Speichermaterial ließ folgende Strukturmuster-Typen erkennen: (I) Gewöhnliche Myelinfiguren; (II) gefältelte Myelinfiguren; (III) schmale Stapel von scheibchenförmigen Lamellen, die sehr wahrscheinlich Bestandteile von ehemals kompakten prismatischen Einschlüssen waren; (IV) gepaarte Lamellen, entweder in lockerer paralleler Anordnung oder in regelloser Verteilung und Ausrichtung; (V) Schichten von parallel verlaufenden Lamellen mit alternierend dichten und kontrastarmen Zwischenräumen; und (VI) Häufchen von Gebilden, die Bruchstücken von sog. pentalaminären Membranen glichen. Die Typen I bis IV sind sowohl bei Früh-als auch bei Spätformen der MLD schon beschrieben worden, die Typen V und VI dagegen noch nicht. Möglicherweise hatten postmortal-autolytische Vorgänge eine Änderung der strukturellen Organisation von einigen cytoplasmatischen Ablagerungen und die Ausbildung dieser bisher bei der MLD unbekannten Lamellenmuster bewirkt.Sonderdruckanforderungen an: Dr. K. Blinzinger (Adresse siehe oben)  相似文献   
68.
Summary The effects of antineoplastic treatment on gliomas are related to tumour cell cycle and proliferation kinetics, glioma tissue architecture, and the surrounding environment. Morphological changes induced by radiation and chemotherapy are characterized by cell necrosis and severe alterations in cell and nuclear morphology caused by changes in the cell kinetic parameters which, however, may also occur spontaneously in untreated anaplastic gliomas.Comparative studies of cytological imprints and routine histological preparations of biopsy and autopsy specimens were performed in four groups of anaplastic astrocytomas and glioblastomas (78 cases) with postsurgical irradiation, combination chemotherapy, and CCNU treatment, and without specific postsurgical treatment (control group). Following radiation and chemotherapy, in addition to increased necrosis and vascular response, a variety of characteristic but nonspecific changes were observed in cell and nuclear morphology with prominent formation of multinucleated giant and monstrous cells, irregular and hyperchromatic nuclei, and severe cytoplasmic degeneration indicating both inhibition of cell division and cell damage. Statistically significant findings were a posttreatment increase in the number of multinucleated giant and monstrous cells and a decrease in the number of mitoses. These changes were more pronounced after chemotherapy than after radiation, while no significant dissimilarities were found between combination chemotherapy and CCNU. The implications of these changes on the mechanisms of antitumour treatment in anaplastic gliomas are discussed.
Morphologische Veränderungen in anaplastischen Gliomen nach Strahlen- und Chemotherapie
Zusammenfassung Die Wirkung anuneoplastisdier Behandlung auf Gliome ist abhängig von der Tumorzeil- und Proliferationskinetik, der Gliomarchitektur und dem umgebenden Hirngewebe. Durch Strahlen- und Chemotherapie induzierte morphologische Veränderungen sind gekennzeichnet durch Zellnekrosen sowie schwere Zell- und Kernschäden durch Eingriffe in die Zellkinetik, doch können diese auch spontan in unbehandelten anaplastischen Gliomen auftreten.Vergleichsuntersuchungen von zytologischen Abstrichen und histologischen Routinepräparaten an Biopsie- und Autopsiematerial von 4 Gruppen anaplastischer Astrozytome und Glioblastome (78 Fälle) wurden nach postoperativer Strahlenbehandlung, Polychemotherapie und CCNU-Behandlung sowie ohne spezifische postoperative Therapie (Kontrollgruppe) vorgenommen. Nach Strahlen- und Chemotherapie fanden sich neben gesteigerter Nekrose und Gefäßreaktion verschiedene charakteristische, aber unspezifische Zell- und Kernveränderungen mit gesteigerter Neigung zur Bildung vielkerniger Riesen- und Monsterzellen, Kernhyperchromasie sowie schwerer Zytoplasmadegeneration als Hinweise auf Mitosestörungen und Zellschädigung. Nach antineoplastischer Therapie fand sich eine statistisch signifikante Zunahme von Riesen- und vielkernigen Monsterzellen sowie Abnahme der Mitosen, wobei diese Veränderungen nach Chemotherapie stärker ausgeprägt waren als nach Bestrahlung. Zwischen Polychemo- und CCNU-Behandlung ergaben sich keine wesentlichen Abweichungen. Die Bedeutung dieser zytologischen Spätbefunde auf die Effekte antineoplastischer Behandlung anaplastischer Gliome wird diskutiert.
  相似文献   
69.
Summary The aim of the present study was to investigate the dose-dependent antiarrhythmic efficacy of lidocaine against electrically induced tachycardias in conscious, chronically instrumented postinfarction dogs. Programmed electrical stimulation (PES) was performed in 16 dogs 8 to 21 days after a 4 h occlusion of the left anterior descending coronary artery (LAD). Infusion of saline in 8 control animals with sustained ventricular tachycardia (SVT) inducible at baseline did not affect subsequent inducibility. In the treatment group 7 of 8 animals responded with SVT and one exhibited ventricular fibrillation at baseline. After an initial bolus of 1 mg/kg lidocaine intravenously (i.v.), the drug was infused at infusion rates of 40, 80 and 120 g/kg/min (i.v.). During 80 g/kg/min lidocaine (mean plasma level 3.5 g/ml) 7 out of 8 animals displayed an antiarrhythmic response; both the lower and the higher infusion rate were associated with a smaller antiarrhythmic efficacy (3 of 8 animals responded to 40 g/kg/min and 4 of 8 to 120 g/kg/min). Licocaine did not affect ventricular refractory periods, but induced an increase in intraventricular conduction time at all infusion rates, from 66.2 ms at baseline to 67.7 ms (p<0.05), 67.7 ms (p<0.05), 70.0 ms (p<0.01) respectively.In conclusion the present study demonstrates that lidocaine is of considerable value in the management of PES-induced ventricular arrhythmias in the postinfarction phase. However there is only a small optimal therapeutic plasma level range, where lidocaine exhibits its antiarrhythmic efficacy against this type of arrhythmia; this makes a carefully titration of the drug necessary both in the experimental and in the clinical setting. Send offprint requests to K. Krejcy at the above address  相似文献   
70.
The rationale for dividing the clinical spectrum of DSM-III-R male heterosexual gender identity disorder into three types was examined. The DSM-III-R category of fetishism for female attire, was included in the analysis. There were 266 male participants divided into three groups: 172 fetishists for female attire or gender identity patients, 52 androphiles, and 42 gynephiles. A 16 item questionnaire was used to examine the groups. A three factor scale ("Fetishism", "Gender Dysphoria" and "Androphilia") was derived from the questionnaire. Only the Gender Dysphoria Factor Scale successfully differentiated between all four conditions, supporting the notion that the three types of gender identity disorder represent a continuum of degree of severity of gender dysphoria. Defining two of the three types of gender identity disorder in terms of the patients' self-reports on fetishism, as DSM-III-R does, is therefore unnecessary.  相似文献   
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