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Biomedical subjects

A H Sutor

Publications and source records attributed to A H Sutor.

At least 19 recordsLinked to original sources
PubMed1995

Identification of a candidate missense mutation in a family with von Willebrand disease type IIC.

A screening project to identify candidate molecular defects causing von Willebrand disease type IIC (VWD IIC) in a German family was carried out using polymerase chain reaction (PCR) amplification of all 52 exons of the von Willebrand factor (VWF) gene, subsequent electrophoresis of single and double stranded DNA and direct sequencing of PCR products with aberrant electrophoretic patterns. Only one candidate mutation, G550R, caused by a G-->A transition, was detected in exon 14 of the pro-VWF gene sequence. This mutation was not found on 200 chromosomes of normal individuals. The propositus was homozygous for the mutation and for an extended intragenic haplotype, composed of eight polymorphic markers. Further family members were heterozygous for the mutation and were phenotypically normal or only mildly affected, in accordance with the recessive pattern of inheritance for VWD type IIC. The mutation could influence one of the presumed active centers for the suspected multimerizing enzymatic activity of pro-VWF localized in the D1 and D2 domain, which corresponds to exon 5 and exon 14 of the VWF gene.

Amino Acid Sequence↗
PubMed1995

von Willebrand factor-collagen binding activity is increased in newborns and infants.

von Willebrand factor (vWF) antigen (vWF:Ag) and vWF-collagen binding activity (vWF:CBA) were measured in plasma by parallel quantitative ELISAs in normal newborns and infants (n = 71). The medians for vWF:Ag (IU/ml) and vWF:CBA (U/ml), respectively, were 1.46 and 1.91 for 2-7 day-old (n = 43), 1.22 and 1.40 for 2-4 week-old (n = 14), 1.22 and 1.15 for 2-6-month-old (n = 14) infants and 0.98 and 1.08 (n = 36) in normal adults. Elevated levels of vWF:Ag, but particularly vWF:CBA were seen for up to 4 weeks of life reaching adult levels between 2 and 6 months of life. The elevated levels of the vWF parameters indicate that caution should be exercised when interpreting laboratory data and diagnosing von Willebrand disease in newborns and young infants and warrant the use of age-specific reference ranges. The efficient haemostasis observed during early neonatal life may in part be due to the increased ability of vWF to interact with collagen.

Collagen↗
PubMed1991

[Hematoma in acute leukemia--suspected diagnosis of child abuse].

A 4-year-old child, suspected of being the victim of child abuse was sent for forensic examination. The examination established multiple, uncharacteristically shaped haematomata in various parts of the body. In addition, petechiae were also present. In view of the nature and localisation of the haematomata and the presence of petechial bleeding a differential diagnosis considered the possibility of a haematological disease and clinical paediatric tests were done to establish the cause, which showed an acute lymphatic leukaemia (ALL) with thrombo(cyto)penia. As haematomata are often the first indication of a leucosis, whenever child abuse is suspected, this possibility should also be considered.

Child Abuse↗
PubMed1990

[Paradoxical bleeding as a complication of the treatment of hemophilia with factor VIII and factor IX preparations].

Paradoxical bleedings are complications occurring under replacement therapy in haemophiliacs by disturbancies of the primary haemostasis. They have been observed during treatment with factor-VIII- and prothrombin-complex concentrates of long duration and in high dosage. Clinical complications, for example delayed wound healing as well as spontaneous bleedings into the skin and from the mucous membranes, have been observed in one quarter of haemophiliacs under substitution therapy. In one third of these patients pathological parameters of primary haemostasis (prolonged bleeding time, reduced retention, retraction, ADP- and collagen-induced aggregation and the platelet factor 3 release) were found out. The following mechanisms or substances may be the cause for these disturbancies: 1. fibrinogen and factor-VIII split products 2. high content of proteins predominantly fibrinogen and factor-VIII-related antigen 3. antigen-antibody reactions 4. development of inhibitors against the Willebrand factor. For treatment of the paradoxical bleedings freshly prepared cryoprecipitate, prednison and Etamsylatum have been used.

Anticoagulants↗
PubMed1989

Absence of anti-human immunodeficiency virus types 1 and 2 seroconversion after the treatment of hemophilia A or von Willebrand's disease with pasteurized factor VIII concentrate.

Patients with hemophilia A or von Willebrand's disease who are treated with concentrated preparations of human factor VIII made from unscreened pooled plasma are at substantial risk of contracting human immunodeficiency virus (HIV) infection. The purpose of this study was to investigate whether by treating such patients with a pasteurized factor VIII concentrate that had been heated in aqueous solution at 60 degrees C for 10 hours, HIV infection could be avoided. Eleven hemophilia centers in the Federal Republic of Germany and two in Austria identified 155 eligible patients who had been treated exclusively with pasteurized factor VIII concentrate and had not received any other blood products. Between February 1979 and December 1986 they received a total of 15,916,260 IU of pasteurized factor VIII. The United States was the source of 80 percent of the plasma from which the concentrate was made. By September 1988, these 155 patients had been screened for antibody to HIV type 1 (anti-HIV-1) with a total of 657 tests; all were negative. Sixty-seven patients were also tested once for antibody to HIV type 2 (anti-HIV-2); all these tests were negative as well. It appears that pasteurization effectively inactivates HIV, even in plasma that is likely to be highly contaminated with the virus.

Austria↗
PubMed1985

[The validity of using autologous placental blood in transfusion medicine].

Resuscitation of the newborn with severe anemia and shock requires rapid expansion of the circulatory volume. This study was done to answer the question whether an infant's autologous placental blood can be recommended for this purpose. In 20 term newborns we obtained immediately after placenta delivery placental blood for bacteriologic, biochemical, hematologic and hemostaseologic investigations by a special placental vein cannulation technique. Besides other coagulation tests resonancethrombography was done and proved to be a simple, quick and reliable method to study coagulability of the placental blood samples. Together with the well-known advantages of autologous blood use the results of this study encourage us to consider autologous placental blood valuable in situations of urgent neonatal volume resuscitation.

Anemia↗
PubMed1983

[Vitamin K deficiency hemorrhages in 4 exclusively breast-fed infants 4 to 6 weeks of age].

Haemorrhages were observed in four wholly breastfed infants beyond the neonatal period. These infants were observed within a period of 8 weeks and showed the following characteristics: 1. Onset of bleedings was unexpected and without prior indication. 2. They were of a serious nature and involved the CNS in two children. 3. In all cases infants between 4 and 6 weeks of life were affected. 4. All infants had been wholly breastfed. 5. All were male. 6. There was a prompt improvement after administration of vitamin K or after blood or blood derivatives. Although preliminary own investigations do not indicate general lowering of vitamin-K-dependent coagulation factors in wholly breastfed infants in the postneonatal period, these 4 cases observed within a short time confirm the necessity to consider vitamin K deficiency in haemorrhages in infants in the postneonatal period. Diagnostic steps have to be initiated immediately.

Blood Transfusion↗
PubMed1980

DDAVP-induced changes of factor VIII-related activities and bleeding time in patients with von Willebrand's syndrome.

5 patients suffering from von Willebrand's syndrome were treated with DDAVP administered intravenously or intransally. The concentration of F. VIII-related activities (F. VIII:C, F. VIII R:AG, F. VIII R:WF), as well as the mobility of F. VIII R:AG in crossed immunoelectrophoresis and the alterations of bleeding time were continuously monitored. DDAVP induced both quantitative and qualitative changes of F. VIII-related properties. The bledding time was markedly reduced for some hours. The therapy was well tolerated and should be submitted to further clinical trials as a possible way to avoid the disadvantages connected with the transfusion of blood components.

Adolescent↗
PubMed1980

[Cholestatic icterus and "shock liver" resulting from disseminated intravascular coagulation in newborns and babies (author's transl)].

The simultaneous occurrence of severe bacterial, especially urinary tract infections and cholostatic icterus in newborn and young infants, is a wellknown phenomenon. Since the pathogenetic principle is unknown, such types of icterus are described as "idiopathic", "septic" or "septic-toxic". However, in recent years an increasing number of pointers seems to indicate that cholostatic jaundice, being a polyaetiological syndrome, can be closely linked in respect of time and cause, with disseminated intra vascular coagulation. It would suggest itself to assume that pathogenetically speaking a severe infection (or some other triggering cause) may lead to shock which, in turn, produces an intravascular consumption reaction, resulting in severe disturbances of microcirculation in the liver and hence in disordered liver function which is clinically manifest in the form of a cholastatic icterus. Among the patients treated at the Unversity Paediatric Hospital at Freiburg, a total of 31 mostly male children--30 babies and one schoolchild--was seen in whom this causal chain is highly likely.

Bacterial Infections↗
PubMed1979

[Bleeding complications in acute myeloblastic leukemia (author's transl)].

Bleeding is common in acute myeloblastic leukemia (AML). At the time of diagnosis, the danger of bleeding cannot be predicted by laboratory means. However, the following factors represent increased risks: Promyeloblastic leukemia, high blast count, low fibrinogen, low plasminogen. From coagulation studies performed at the time of bleeding complications, the pathomechanism leading to bleeding complications usually cannot be detected. The question whether impairment of production, consumption coagulopathy, or primary fibrinolysis causes the bleeding complications can only be answered by controlling frequently clinical and hemostatic criteria, which include the thrombocytic stystem as well as plasmatic coagulation and fibrinolysis. At the present time, the therapy of bleeding complications in AML is symptomatic. It consists of transfusion with thrombocytes or fresh whole blood, respectively. Coagulation factor concentrates should only be given in combination with Heparin to prevent the deterioration of consumption coagulopathy.

Blood Coagulation Disorders↗