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  • 1
    ISSN: 1432-055X
    Keywords: Schlüsselwörter Kinder der Zeugen Jehovas ; Anämie ; Verbrennung ; Erythropoetin ; Key words Children of Jehovah's witnesses ; Burn injury ; Anaemia ; Erythropoietin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Abstract A 3.5-year-old girl suffered from a thermal injury affecting 37% of the body surface area. The parents, being Jehovah's witnesses, refused permission for their child to receive blood transfusions. As the haemoglobin level was only 7.5% and a necrectomy was planned, the patient was likely to need blood transfusions. Indications for transfusion were defined as clinical signs of hypoxia and/or cardiovascular instability. A judicial declaration was proposed. Hb decreased during the therapy. To stimulate the erythropoiesis erythropoietin and iron were administered. During the clinical course the anaemia worsened. First, a conservative treatment with polyvidoniodine ointment for tanning was started, to avoid an operation during the acute phase after the injury, as in this case it was thought a blood transfusion would definitely be necessary. On the 19th day after the injury a necrectomy of 10% of the body surface was necessary because of fever and leucocytosis not responding to antibiotics. The most likely cause of the symptoms was an infection of the burned area. Hb was 4.6 g/dl%. General anaesthesia was performed with midazolam, ketamine and vecuronium and mechanical ventilation. No blood transfusion was required during the operation.Vital signs were stable during the preoperative period, during anaesthesia and following the operation. There were no signs of tissue hypoxia. Peripheral oxygen saturation ranged between 98% and 100%, lactate and arterial blood gas samples were normal, and the child was awake and cooperative before and after anaesthesia. The lowest Hb was 3.3 g/dl on the 22th day after injury (3rd postoperative day). In this phase the patient was still playing and riding a tricycle. On the 45th day after injury the child was discharged home with Hb of 10.9 g/dl and reticulocytosis of 33%.
    Notes: Zusammenfassung Ein 3,5jähriges Mädchen, dessen Eltern als Zeugen Jehovas eine Bluttransfusion bei ihrem Kind kategorisch ablehnten, wurde mit einer Verbrennung von 37% der Körperoberfläche und einem Hb von 7,5 g/dl zur Operation verlegt. Als Transfusionsindikationen wurden für den stationären Aufenthalt klinische Zeichen einer Hypoxie und/oder Kreislaufinstabilität festgelegt. Es wurde eine richterliche Verfügung erwirkt, die den Eltern das Sorgerecht für die medizinischen Maßnahmen entzog, um ggf. bei oben beschriebener Indikation eine Transfusion durchführen zu können. Im Verlauf der Behandlung nahmen Hb und Hk weiter ab. Trotz Gabe von Erythropoetin und Eisen konnte die Erythropoese nicht stimuliert werden. Um eine Operation im Akutstadium zu vermeiden, die mit einer hohen Wahrscheinlichkeit eine Bluttransfusion erforderlich gemacht hätte, wurde primär eine konservative Therapie mit einer Gerbung durch Polyvidon-Jodsalbe durchgeführt. Aufgrund einer nekrosebedingten systemischen Infektion erfolgte am 19. Tag eine Nekrosektomie von ca. 10% der Körperoberfläche mit Deckung durch Eigenhaut vom Unterschenkel in intravenöser Anästhesie und kontrollierter Beatmung (Ketamin/Midazolam/Vecuronium). Der Hb betrug präoperativ 4,6 g/dl, der Hk 14%. Da das Kind während des gesamten stationären Aufenthalts kreislaufstabil war und keine Zeichen einer Hypoxie auftraten, wurde keine Transfusion durchgeführt. Der niedrigste Hb betrug am 22. Tag nach Unfall (=3. postoperativer Tag) 3,3 g/dl. Am 45. Tag nach Unfall wurde das Kind mit einem Hb von 10,9 g/dl und 33% Retikulozyten im Differentialblutbild nach Hause entlassen.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1440
    Keywords: Leukemia ; Lymphoma ; Fever ; Neutropenia ; Mycosis ; Antibiotics, antifungal ; Autopsy ; Retrospective studies ; Comparative studies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A rate on autopsy of up to 30% systemic fungal infections and difficulties in diagnosing systemic mycosis antemortem have led to the empiric use of amphotericin B in patients with hematological malignancies, prolonged fever, and neutropenia. Routine empiric antifungal treatment was initiated in our institution in 1982. Amphotericin B was given to granulocytopenic patients with hematological malignancies with (a) unremitting fever after 48–72 h of antibiotic treatment, (b) recurrent fever during antibiotic treatment, or (c) with newly detected pulmonary infiltrates, sinusitis, skin and retinal lesions suggestive of a fungal infection. With this approach the rate of systemic fungal infections decreased significantly from 10% (27 of 270 patients; 1973–1981) to 4% (6 of 153 patients; 1982–1986,P〈0.02). The reduction of systemic fungal infections was most prominent in patients with acute myelogenous leukemia, where its proportion decreased from 16% (16 of 98 patients; 1973–1981) to 4% (2 of 50 patients; 1982–1986,P〈0.023). Our data support the hypothesis that the incidence of systemic fungal infections in patients with hematological malignancies and especially in acute myelogenous leukemia can be reduced significantly by empirical treatment with amphotericin B.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1440
    Keywords: TSH ; Thyroxin ; Trijodothyronin ; Hypothalamus ; Hypophysen-Schilddrüsenachse ; TRH ; TRH ; TSH ; Thyroxin ; Triiodothyronine ; Hypothalamo-pituitary-thyroid-axis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary TSH, T3 and T4 response to stimulation with thyrotropin releasing hormone (TRH) has been investigated in 24 young healthy adults after intravenous injection and in 25 young healthy adults upon oral application of 40 mg of TRH. After intravenous injection the TSH concentration raises from a mean of 1.6 to a mean maximum of 11.7µU/ml. A statistically significant sex difference could not be found. T3 shows a statistically significant increase which is however too small to be of diagnostic value in an individual test. After oral stimulation with 40 mg of TRH, TSH rises to a slightly higher maximum of 13.2 µU/ml after 3 h. The T3 increase from 1.5 to 2.19 ng/ml is significant and considerably higher than after intravenous stimulation. The thyroxin increase is statistically significant. The present results compare well with previously published data for intravenous stimulation. The oral route of TRH application has not yet been widely used and the present series establishes the normal response in young healthy adults. Repetitive stimulation with three times 40 mg of TRH leads to a decrease in TSH stimulation which reaches 5.8 µU/ml 3 h after the third dose. This is in contrast to a comparable increase in plasma T3.
    Notes: Zusammenfassung Die Plasma TSH, T3 und T4 Reaktion auf Stimulation mit dem synthetischen thyrotropin-releasing-hormone (TRH) wurde bei 24 jungen gesunden Erwachsenen nach intravenöser Stimulation mit 200 µg TRH und bei 25 gesunden jungen Erwachsenen nach oraler Stimulation mit 1–3 maliger Applikation von 40 mg TRH untersucht. Nach intravenöser Stimulation steigt die TSH Konzentration innert 30 min auf einen Maximalwert von im Mittel 11,7 µE/ml an. Der T3 Anstieg von 1,17auf 1,62 ng/ml nach 2 h ist statistisch signifikant aber im Einzeltest diagnostisch nicht verwertbar. Ein signifikanter Geschlechtsunterschied konnte in der vorliegenden Untersuchung weder für die TSH noch für die T3 Reaktion gefunden werden. Nach oraler Stimulation wird ein etwas höherer maximaler TSH Wert von 13,2 µE/ml 3 h nach der Applikation gefunden. Der T3 Anstieg auf 2,19 ng/ml ist statistisch signifikant und diagnostisch verwertbar. Die Zunahme der Thyroxinkonzentration nach 8 h oder 3 h nach der dritten TRH Dosis ist statistisch signifikant. Die nach intravenöser Stimulation gefundenen Werte stimmen gut mit den bisherigen Ergebnissen in der Literatur überein. Während die Untersuchungen an größeren gesunden Kollektiven für die intravenöse Stimulation eher spärlich sind, fehlen sie für die orale Stimulation praktisch ganz. Dreimalige repetierte Stimulation mit je 40 mg TRH über 24 h ergeben nach der dritten Dosis eine geringere TSH Stimulation auf nur 5,8 µE/ml bei einer vergleichbaren Zunahme der T3 Konzentration.
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary For males with idiopathic sterility, a molecular screen specific for small lesions (microdeletions) in interval 6 of the Y chromosome was set up using 29 Y-DNA probes. A “de novo” microdeletion in Y interval 6 was detected in 2 out of 19 “chromosomally normal” sterile males. The first microdeletion includes the Y-DNA probes pY6HP35 and 12f3; the second microdeletion includes the Y-DNA probes pY6HP52, 49f, FR15-II and the subinterval “C” of probe 50f2. A probe of the pY6H sequence family is present in both deletions. Sequences of this family cross-hybridize to dhMiF1, a DNA sequence of a fertility gene structure on the Y chromosome of Drosophila hydei. It was possible to map the position of the Y-deletion of one patient to the distal part of Yq11.22 or the proximal part of Yq11.23, and the deletion of the second patient to the distal part of Yq11.23. These microdeletions probably do not overlap. Since AZF, a human spermatogenesis gene, has been mapped to Y interval 6, we postulate that the microdeletions detected in this chromosome region affect the functional DNA structure of the AZF gene. If this holds true, it is possible that the AZF locus, cytogenetically mapped to distal Yq11, contains two spermatogenesis genes (AZFa and AZFb) or a large gene structure comparable to the Y fertility genes of Drosophila.
    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 A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene can be identified. These deletions preferentially include exon 45, which can be detected by multiplex polymerase chain reaction (PCR) and Southern blot analysis of genomic cosmid clones that map to this critical region. As a new approach for definitive carrier detection, we have performed chromosomal in situ suppression (CISS) hybridization with these cosmid clones in female relatives of four unrelated patients. In normal females, most metaphases showed signals on both×chromosomes, whereas only one×chromosome was labeled in carriers. Our results demonstrate that CISS hybridization can define the carrier status in female relatives of DMD patients exhibiting a deletion in the dystrophin gene.
    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 An experimental approach towards the molecular analysis of the male fertility function, located in interval 6 of the human Y chromosome, is presented. This approach is not based on the knowledge of any gene product but on the assumption that the functional DNA structure of male fertility genes, evolutionary conserved with their position on the Y chromosome, may contain an evolutionary conserved frame structure or at least conserved sequence elements. We tested this hypothesis by using dhMiF1, a fertility gene sequence of the Y chromosome of Drosophila hydei, as a screening probe on a pool of cloned human Y-DNA sequences. We were able to select 10 human Y-DNA sequences of which 7 could be mapped to Y interval 6 (the pY6H sequence family). Since the only fertility gene of the human Y chromosome is mapped to the same Y interval, our working hypothesis seems to be strongly supported. Most interesting in this respect is the isolation of the Y-specific repetitive pY6H65 sequence. The pY6H65 locus extends to a length of at least 300 kb in Y interval 6 and has a locus-specific repetitive sequence organization, reminiscent of the functional DNA structure of Y chromosomal fertility genes of Drosophila. We identified the simple sequence family (CA)n as one sequence element conserved between the Drosophila dhMiFi fertility gene sequence and the homologous human Y-DNA sequences.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1157
    Source: Springer Online Journal Archives 1860-2000
    Topics: Geosciences
    Notes: Abstract  The high thermal gradient and heat flow 〉1000 mW m-2 on Håkon Mosby Mud Volcano are ascribed to rapid transport of pore water, mud, and gas in a narrow, deep conduit within a 3.1-km-thick glacial sediment unit. The instability is caused by rapid loading of dense glacial sediments on less dense oozes. Changes in pressure–temperature conditions by sudden, large-scale downslope mass movement may induce structural deformation, opening transient pathways from the base of the glacial sediments to the sea floor. This model may also explain slope maxima elsewhere on the margin.
    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 Chromosomal analysis in a child with ambiguous sex showed mosaicism of at least two cell lines with one or more marker chromosomes or none at all. They were shown to be derived from the Y chromosome by fluorescent in situ hybridisation (FISH) using different DNA probes that cover parts of the long and the short arm.
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Chromosoma 103 (1994), S. 324-330 
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Cytogenetic analysis of aberrant human Y chromosomes was done by fluorescence in situ hydbridization (FISH) with Y specific repetitive DNA probes. It revealed an interstitial deletion of different DNA blocks in two dicentric chromosome structures. One deletion includes the total alphoid DNA structure of one centromeric region. The second deletion includes the total repetitive DYZ5 DNA structure in the pericentromeric region of one short Y arm. Both dicentric Y chromosomes were iso(Yp) chromosomes with break and fusion point located in Yq11, the euchromatic part of the long Y arm. Their phenotypic appearance was “abnormal”, resembling small monocentric Yq-chromosomes in metaphase plates. Mosaic cell lines, usually included in karyotypes with dicentric Y chromosomes, were not observed. It is assumed that both deletion events suppress the kinetochore activity in one Y centromeric region and thus stabilize its dicentric structure. Local interstitial deletion events had not been described in dicentric human Y chromosomes, but are common in dicentric yeast chromosomes. This raises the question of whether deletion events in dicentric human chromosomes are rare or restricted to the Y chromosome or also represent a general possibility for stabilization of a dicentric chromosome structure in human.
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  • 10
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Different patterns of tumour growth resulted from inoculation of separate isolates of the Subgroup C Bratislava 77 strain (B77) of Avian Sarcoma Virus (ASV) into three closely-related inbred lines of chickens. The major genetic difference between these chicken lines is that each is homozygous for a different MHC haplotype. Since for one of the viral isolates, resistance to progressive tumour growth has been shown to be controlled by MHC-linked genes, the data presented here suggest that MHC-controlled tumour rejection operates on viral or cellular determinants different from those which define classical viral group or subgroup specificity.
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