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  • 1
    ISSN: 1432-1076
    Keywords: Lymphoid malignancy ; Seizures ; Cranial computerized tomography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Focal and generalized seizures occurred in 4 patients with acute lymphoblastic leukemia and non-Hodgkin-lymphoma. The etiology of the neurological complications could be established by cranial computerized tomography (CT): i.e., 1. localized metastasis with calcification and 2. acute intracerebral hemorrhage during induction therapy in two patients with malignant lymphomas; 3. diffuse cerebral infiltration with blast cells and 4. cerebral atrophy in two children with acute lymphoblastic leukemia who were in relapse. Accurate diagnosis of cerebral complications in hemoblastoses is essential for appropriate therapy and CT may lead to more effective treatment in patients with lymphoid malignancy and seizures.
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 133 (1980), S. 243-250 
    ISSN: 1432-1076
    Keywords: Craniofacial anomalies ; Anthropological measurement ; Congenital heart defect ; Mental retardation ; Multiple congenital anomalies ; Syndromes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Measurement of various craniofacial structures was compared with clinical assessment of craniofacial anomalies. Different diagnostic groups of children were studied. Anomalies were seen more often in patients with congenital heart defect, mental retardation and multiple congenital anomalies syndromes than in control children. Comparative study of quantitative data and qualitative (clinical) assessment showed some agreement but also many discrepancies. Therefore, in describing craniofacial anomalies both methods should be used. This is particularly true in the differential diagnosis of multiple congenital anomalies syndromes and variant familial developmental patterns.
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract In an infant with multiple malformations (microcephaly, deformities of the skull, malformation of the eyes, skeletal abnormalities, inquinal hernias, malformation of the heart, severe mental retardation) we found within a modal number of 45 chromosomes one extra chromosome of a particularly large shape. On the other hand two chromosomes of the C-group were missing. Since there is agreement between the autoradiographic results in blood culture and the sex-chromatin findings we assume a partial translocation of a C-group chromosome to a X-chromosome. Whereas this X-chromosome shows a late DNA-replication pattern and seems to be inactivated, the translocated part of the autosome is not involved into the replication process of the gonosome; hence does not seem to be inactivated. The cytogenetic findings and their relation to the hypothesis of LYON are discussed. In comparing these findings with the observed X-autosomal translocations in mice discretion is indicated. In this study the inactivation of the X-chromosome seems to remain without influence on the translocated part of the autosome. The phenotypic appearance of the child with multiple abnormalities is due to the deletion of the C-group chromosome (C'?), which is affected by the translocation. Anamnestic data indicate that preconceptional exposure of the paternal gonads to X-rays may have caused the chromosomal aberration.
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The case of a 2;5 year old boy with the typical features of the Cri du Chatsyndrome is described. The cytogenetical examination of lymphocytes and fibroblasts revealed a mosaicism with an approximated 1:1 relation between normal cells and cells with a deletion of the short arm of a B-chromosome. Autoradiography proved the deleted chromosome to be a chromosome No. 5.
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  • 5
    ISSN: 1432-1076
    Keywords: Birth history ; Cerebral palsy ; Etiology ; Twinning ; Spastic tetraplegia ; Gestation length ; Birthweight
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We analyzed the gestational, parturitional, neonatal (GPN) histories of 281 severely mentally retarded patients with cerebral palsy to define the etiology or pathogenesis of cerebral palsy in each patient. No association between type of cerebral palsy and GPN histories was found except for an increase in spastic-athetoid patients in the breech delivery subgroup. Significant findings include: increased incidence of prematurity and postmaturity, small and large for-gestational age (GA) fetal size, a normal birthweight for GA distribution of patients with diabetic mothers, an excess of mothers ≥35 and ≤20 years old, an increased immediately-previous sib interval of 2.59 years suggestive of an “infertility factor”, an unremarkable GPN history in one third of the cases, in another one third GPN problems not usually associated with a high risk of CNS damage, and in one third gross complications which were probably responsible for the CP, including: an increased incidence of breech deliveries, twinning, prolonged and precipitous labor and placental complications; no increased association of athetosis and Rh incompatibility or incidence of toxemia was found. Disseminated intravascular coagulation due to prenatal death of a twin may have been the cause of brain damage in several patients.
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  • 6
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary In a 3 months old infant we found a total cleft of the breastbone and a rare malformation of the heart (Tricuspidalatresia with ASD, VSD and Transposition of main arteries); in addition the infant had several deformities of the skelet: lateral hexadaktylia on both hands and on one foot, microcephaly and acrocephaly. The psychomotoric development was delayed. The embryological combination is discussed; we assume a single disturbation affecting all the different organ systems. An occasional combination of these malformations seems very unlikely.
    Notes: Zusammenfassung Bei einem Säugling fand sich neben einer totalen Sternumspalte eine seltene Herzmißbildung (Tricuspidalatresie mit Vorhof- und Kammerseptumdefekt sowie Transposition der großen Gefäße); außerdem bestanden verschiedene Skeletdeformitäten: laterale Hexadaktylie an beiden Händen und am rechten Fuß, Mikrocephalie, Akrocephalie. Die psychomotorische Entwicklung des Kindes war beträchtlich verzögert; nach schlechtem Gedeihen verstarb es an Herz-Kreislauf-Versagen und Ateminsuffizienz. — Auf die entwicklungsgeschichtlichen Zusammenhänge wird hingewiesen und diskutiert, daß für die verschiedenen Abartungen eine einheitliche, übergeordnete Störung anzunehmen ist. Zufällige Kombination der Mißbildungen darf als unwahrscheinlich angesehen werden.
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  • 7
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    Electronic Resource
    Springer
    Anatomy and embryology 124 (1964), S. 126-152 
    ISSN: 1432-0568
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 103 (1968), S. 90-108 
    ISSN: 1432-1076
    Keywords: Dyskranie ; Cranio-mandibulo-faciale Dysmorphie ; Extremitätenmißbildung ; Breite Daumen und Großzehen ; Geistiger Entwicklungsrückstand ; Oligophrenie ; Minderwuchs ; Balkenhypoplasie
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Das 1963 von Rubinstein u. Taybi erstmals beschriebene Syndrom ist durch Anomalien des Gesichts, Vorkommen von breiten Daumen und Großzehen sowie eine ausgeprägte geistige Retardierung gekennzeichnet. An fünf eigenen Fällen wird das Erscheinungsbild des Syndroms dargestellt; bei drei Patienten sind die Symptome voll ausgeprägt, während zwei Fälle wahrscheinlich Abortivformen oder Varianten darstellen. Im Vergleich mit den bisher bekannten Fällen lassen sich folgende Hauptsymptome finden: Die körperliche Entwicklung ist verzögert; es besteht eine Mikrobrachycephalie; am Gesicht fallen Hypertelorismus, antimongoloid geneigte Lidachsen, Strabismus, hoher Gaumen und Mikrogenie auf. Daumen und Großzehen sind breit, kräftig und oft nach lateral oder medial hin geknickt. In einzelnen Fällen wurden zusätzliche Mißbildungen (Foramina parietalia permagna, Wirbelfehlbildung, Herzvitien, Kryptorchismus usw.) beobachtet. Im Pneumencephalogramm fanden wir bei zwei Patienten eine Hypoplasie des Corpus callosum; es ist deshalb anzunehmen, daß auch Fehlbildungen des Gehirns zum Erscheinungsbild des Syndroms gehören. Die Kinder sind meist imbezill mit einem Entwicklungs- oder Intelligenzquotienten unter 50; in ihrem verhalten fallen Kontaktfreudigkeit, Neigung zu Imitation, Grimassieren und Lachen besonders auf; die Sprachentwicklung ist beträchtlich verzögert, die Feinmotorik ungeschickt, der Gang steif, breitbeinig und ungelenk. Über die Ursache der Abartung ist bisher nichts bekannt.
    Notes: Summary In 1963 Rubinstein and Taybi described a syndrome characterized by facial abnormalities, broad thumbs and broad great toes and mental retardation. Five cases of this syndrome are presented, three with typical features, two which are considered to be abortive cases or formes frustes. Comparing these cases with others from the literature the following main symptoms are seen: retarded somatic development; microbrachycephaly, hypertelorism, antimongoloid slants, strabism, high arched palate, micrognathia. Thumbs and great toes are broad, often curved. In some cases additional abnormalities are found (foramina parietalia permagna, malformation of the spine, the heart, or kryptorchidism). In the pneumencephalogram we found in two patients a hypoplasia of the corpus callosum; therefore we assume that a malformation of the brain will be part of the syndrome. The children with the Rubinstein-Taybi syndrome are severely retarded with a DQ or IQ below 50. They are socially adjusted, inclined to imitation, grimacing and laughing; the development of speech is markedly retarded, the psychomotoric activities are clumsy. The etiology of the syndrome is not yet known.
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  • 9
    ISSN: 1433-8491
    Keywords: Familial Simple Mental Retardation ; X-Linked Recessive Inheritance ; Xg Blood Group ; X-Linkage ; X Chromosome Mapping ; Familiärer unkomplizierter Schwachsinn ; Geschlechtsgebunden-recessiver Erbgang ; Xg-Blutgruppe ; Gen-Koppelung ; Chromosomen-Mapping
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung In einer Geschwisterschaft und in 2 Sippen kommt unkomplizierter Schwachsinn ausschließlich bei Männern vor. In den beiden Sippen sind die Kranken über ihre Mütter miteinander verwandt. Die Annahme eines X-chromosomalen Gens liegt nahe. Ähnliche Sippen aus der Literatur werden referiert. Enge Koppelung mit der ebenfalls X-chromosomal lokalisierten Xg-Blutgruppe scheint nicht vorzuliegen. Die Symptomatik dieses Schwachsinnstyps wird durch eine erhebliche Behinderung im sprachlichen Ausdruck charakterisiert. Soziale Anpassung ist bedingt möglich. Bisher ist es nicht gelungen, biochemische oder morphologische Anomalien nachzuweisen.
    Notes: Summary One sibship and two kinships are described showing simple mental retardation which occurs in the males only. The patients in the two families are related through their mothers. X-linked inheritance is considered. There is a survey of the literature on families with similar findings. In our families there is no close linkage between the supposed X-linked gene for oligophrenia and the locus for the Xg blood group. The outstanding clinical feature is a severe impairment of verbal expression. Fairly good social adaptation is possible. No biochemical neurological or morphological anomalies could be traced.
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  • 10
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Kreuzotter ; Vergiftungssymptome ; Schlangenbisse ; Key words Common viper ; Toxic reaction ; Adder bite
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The vast majority of adder bites among children in Germany is caused by the common viper (vipera berus). The venom that is applicated by the viper contains several enzymes, some of them with hemorrhagic and neurotoxic activity. Adder bites among children may be without any symtoms but as well may cause severe intoxication. Case report: We report a six year old boy who was bitten into his left ankle by a common viper. He displayed symptoms of severe intoxication like strong swelling of the leg, the edema starting to spread over his body, and signs of anaphylactic reaction. The application of antivenom was necessary twice. Discussion: Because the application of antivenom of equine origin may cause an allergic reaction it is recommended in severe cases only. As far as possible antivenin with purified Fab fragment antibodies from sheep should be used, which less frequently causes allergic reactions.
    Notes: Zusammenfassung Toxische Schlangenbißverletzungen bei Kindern sind in Deutschland fast ausschließlich durch Kreuzottern (Vipera berus) bedingt. Die Kreuzotter injiziert ein Gift aus verschiedenen Enzymen und hämorrhagischen sowie neurotoxischen Faktoren. Kreuzotterbisse bei Kindern können symptomarm sein, jedoch auch schwerste Vergiftungserscheinungen verursachen. Fallbericht: Wir berichten über einen knapp 6jährigen Jungen, welcher von einer Kreuzotter in den linken Außenknöchel gebissen wurde. Der Patient zeigte schwere toxinbedingte Vergiftungssymptome mit einer ausgeprägten Schwellung der Extremität, ein auf den Rumpf übergreifendes Ödem und anaphylaktische Reaktionen. Die klinische Symptomatik erforderte eine 2malige Gabe von Schlangengiftimmunserum. Diskussion: Die Verabreichung von nebenwirkungsreichen heterologen Pferdeantiseren ist nur bei schweren Fällen gerechtfertigt. Nach Möglichkeit sollte das gut verträgliche Antivenin mit gereinigten Fab-Fragment-Antikörpern vom Schaf verwendet werden.
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