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Biomedical subjects

E Scheibel

Publications and source records attributed to E Scheibel.

At least 19 recordsLinked to original sources
PubMed1992

[Social conditions of hemophiliacs].

The objects of this investigation were 1. to describe the social conditions of haemophiliacs by means of questionnaires and to compare these with the population as a whole and 2. to investigate the social integration of haemophiliacs as assessed by type of family, occupation, club membership and contact with family and friends. The group investigated consisted of all Danish haemophiliacs with moderate to severe factor VIII and IX deficiency and cases of severe von Willebrand's disease. 64% replied (n = 135). Comparison by the age stratification with the population as a whole, showed that fewer haemophiliacs in the age group 25-44 years lived with partners and children and that more lived with their parents or alone. Haemophiliacs had a higher school education and more haemophiliacs were currently receiving occupational training. The occupational frequency was low for all age groups and more haemophiliacs had reduced working hours. The frequencies of contact with friends and family and access to practical assistance corresponded to that of the population as a whole. Social integration was correlated directly with school education and occupational training and satisfaction with contact with other people and inversely correlated with age, contact with social welfare offices and number of social payments received. Only a total of 6% of haemophiliacs were very poorly socially integrated.

Adolescent↗
PubMed1992

Prenatal exclusion of haemophilia A and carrier testing by direct detection of a disease lesion.

A novel mutation was detected in the Factor VIII gene of a sporadic case of severe haemophilia A. The lesion, a CGA-->TGA transition, converts Arg 795 to Term and adequately accounts for the severe phenotype observed. PCR/direct sequencing was used to confirm the carrier status in the mother. Exclusion of haemophilia A in an at-risk pregnancy was then achieved by demonstration of the absence of this lesion in fetal DNA from a chorionic villus sample. The mutation was also detectable by chemical cleavage of mismatch (CCM), which both confirmed the prenatal diagnosis and established the carrier status of the proband's sister. This example therefore serves to illustrate the potential of direct gene analysis in sporadic cases of haemophilia A and/or in families uninformative for known RFLPs.

Base Sequence↗
PubMed1992

Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden.

Type IIB of von Willebrand's disease (vWD) is a variant in which the structurally abnormal von Willebrand factor (vWF) shows an increased affinity for the platelet vWF receptor, glycoprotein Ib (GPIb). This may sometimes give rise to platelet aggregation and thrombocytopenia in vivo. In 20 patients from nine unrelated families with type IIB vWD from Denmark, Germany and Sweden we studied the molecular defect by amplification and direct sequencing of parts of exon 28 which encode for the vWF domain that interacts with platelet GPIb. Three different point mutations were identified one of which has not previously been reported. Fifteen patients from five families were heterozygous for the Arg543-->Trp substitution. The mutation had occurred independently in all five families and in two of them represented a de novo mutation. In one of these families the father, though asymptomatic and with normal laboratory test results, carried the mutation in heterozygous form. In three families, four affected members were found to be heterozygous for the Arg543-->Cys substitution. The mutations were of different origin at least in two of the families. The third substitution, Val551-->Leu, which has not previously been described, was found in one patient and was due to a de novo mutation. In most of the patients spontaneous thrombocytopenia had been recorded on at least one occasion. Five of the patients with the Arg543-->Trp substitution and the one with the Val555-->Leu substitution had all had bleeding associated with thrombocytopenia in the neonatal period of early infancy.

Adult↗
PubMed1992

Neutralizing antibodies against two HIV-1 strains in consecutively collected serum samples: cross neutralization and association to HIV-1 related disease.

97 sera collected during a 10-year period from 10 HIV-1 infected individuals were tested for neutralizing capacity against a virus isolate FICPH-22 obtained from a Danish AIDS patient, and the laboratory strain HTLV-IIIB. Three patterns of serum neutralizing activity were demonstrated: (a) patients developing high neutralizing activity against both HIV strains; (b) patients developing high neutralizing activity against the Danish virus isolate; and (c) patients developing only low titers of neutralizing antibodies (NA) against both HIV strains. The HTLV-IIIB strain was less sensitive to serum neutralization than the FICPH-22 isolate and the appearance of NA against HTLV-IIIB was typically lacking several years behind that against FICPH-22 indicating a broadening of the NA response over time. No difference in clinical outcome was observed comparing patients reaching high titers of NA and patients with low titers. Development of AIDS among patients reaching high titers of NA was preceded by a decline in NA titers, indicating an association of high titers of NA with the healthy carrier state and of declining or low titers of NA with disease progression. The majority of the neutralizing activity was mediated by IgG, but some neutralizing activity was demonstrated in the IgG depleted serum, indicating the presence of additional neutralizing substances in serum.

Acquired Immunodeficiency Syndrome↗
PubMed1989

Clinical course of primary HIV infection: consequences for subsequent course of infection.

OBJECTIVE: To investigate the impact of the clinical course of the primary HIV infection on the subsequent course of the infection. DESIGN: Prospective documenting of seroconversion, follow up at six month intervals, and analysis of disease progression by life tables. PATIENTS: 86 Men in whom seroconversion occurred within 12 months. PRIMARY OUTCOME MEASURE: Progression of HIV infection, defined as CD4 lymphocyte count less than 0.5 X 10(9)/l, recurrence of HIV antigenaemia, or progression to Centers for Disease Control group IV. MAIN RESULTS: Median follow up was 670 (range 45-1506) days. An acute illness like glandular fever occurred in 46 (53%) subjects. Three year progression rates to Centers for Disease Control group IV was 78% at three years for those who had longlasting illnesses (duration greater than or equal to 14 days) during seroconversion as compared with 10% for those who were free of symptoms or had mild illness. All six patients who developed AIDS had had longlasting primary illnesses. Three year progression rates to a CD4 lymphocyte count less than 0.5 X 10(9)/l and to recurrence of HIV antigenaemia were significantly higher for those who had longlasting primary illnesses than those who had no symptoms or mild illness (75% v 42% and 55% v 14%, respectively). CONCLUSION: The course of primary infection may determine the subsequent course of the infection.

Acquired Immunodeficiency Syndrome↗
PubMed1989

Incidence of childhood cancer in Denmark 1943-1984.

A population-based study was carried out on 5790 tumours in children (aged 0-14 years) diagnosed in the period 1943-1984 in Denmark. Cases were identified from the files of the high-quality National Cancer Registry in which codes for tumours were based solely on topography until the end of 1977. To achieve a uniform data set following the outlines of the International Classification of Diseases for Oncology (ICD-O) coding system used by the Cancer Registry today, all cases of childhood cancer diagnosed prior to 1978 were re-evaluated, and an ICD-O code was applied. Tumours were aggregated into diagnostic groups suitable for analysis and presentation using an internationally agreed scheme, which was designed by the Manchester Children's Tumour Registry and modified recently by the International Agency for Research on Cancer. The average incidence rates for all histological types of childhood cancer combined were 137 per million boys and 111 per million girls, which are close to those reported from the USA but higher than most of the overall figures reported from Europe. The proportions of specific tumours were similar to those observed in other industrialized countries. The well known excess of cancer cases among boys compared to girls was due mainly to the occurrence of 90% more lymphomas, 30% more leukaemias and 15% more tumours of the central nervous system (CNS) among boys. Although significant increases were seen in the subgroups of CNS neoplasms and neuroblastomas (both sexes) and of lymphomas (boys only), no overall increase in childhood cancer was observed during the 42-year period of registration. While the increase in the incidence of CNS tumours was explained at least partly by better cancer surveillance, no interpretation can be offered for the increases seen for neuroblastomas and lymphomas. Our descriptive data suggest that environmental exposures do not play any significant role in the aetiology of the majority of childhood cancers.

Adolescent↗
PubMed1989

Serological markers of primary HIV infection.

39 persons with an incidentally discovered seroconversion from HIV antibody negative (Ab-) to antibody positive (Ab+) state as measured by an enzyme-linked immunosorbent assay (ELISA) were investigated for the presence of (1) HIV antigen (Ag) and (2) immunoblotting test (IBT) Ab in serum samples collected within the year before seroconversion. 13 (33%) of the patients were HIV Ag+ at some time before seroconversion. However, the collection of samples was not done systematically and the samples from patients who had at least 1 sample collected within 3 months before seroconversion were thus compiled separately. This group consisted of 58 samples from 19 patients and among these none were HIV Ag+ earlier than 11 weeks before seroconversion, but the prevalence of HIV Ag+ samples was rising towards seroconversion and 10 patients (53%, 95% confidence limits: 29-76%) became HIV Ag+ in this 11-week period. Further, among all patients 13 (33%) were IBT Ab+ 4-50 days (median: 14 days) before seroconversion. Finally, among 18 patients with signs and symptoms consistent with an acute HIV infection 10 were HIV Ag+, as opposed to 4 HIV Ag+ patients among 21 without symptoms (p = 0.041).

Adolescent↗
PubMed1988

Pattern of immunoglobulin classes and IgG subclasses of platelet-associated immunoglobulin in HIV-seropositive haemophiliacs.

Abnormal amounts of platelet-associated immunoglobulins (PAIg) and seropositivity for HIV were demonstrated in 18 haemophiliacs suffering from thrombocytopenia of varying severity. Among 34 non-thrombocytopenic haemophiliacs seropositivity for HIV was found in association with increased levels of PAIg in 18 patients, whereas increased amounts of PAIg were seen only in 4 of the 16 patients seronegative for HIV. In most of the haemophiliacs with thrombocytopenia, the PAIg represented all classes of immunoglobulins and in half of the cases all subclasses of IgG, while in 33 patients with autoimmune thrombocytopenic purpura (AITP), PAIg was IgG1 and IgM in most cases. Our data show a difference in the pattern of PAIg in AITP patients and in thrombocytopenic haemophiliacs seropositive for HIV. We suggest that the thrombocytopenia in haemophiliacs is related to the polyclonal B cell activation also found in other patients seropositive for HIV and perhaps indicative of AIDS-related complex.

Blood Platelets↗
PubMed1987

Continuous high-dose factor VIII for the induction of immune tolerance in haemophilia A patients with high responder state: a description of eleven patients treated.

Eleven severely affected haemophilia A patients (aged 6-42 y) with F VIII:C inhibitor (high responders) were treated with high-dose F VIII in order to eliminate the inhibitors. The patients comprise Danish high responder patients treated during the period 1977-1985. In all patients the inhibitors decreased significantly. In six, the inhibitor apparently disappeared (detection limit 0.4 Bethesda Units per ml) (BU/ml), in four patients a low level inhibitor of 0.4-1.4 BU/ml persisted. One patient is still on high-dose schedule. The duration of high-dose treatments ranged from less than one month up to 18 months. In all patients the tendency to spontaneous bleedings vanished when a measurable VIII:C level appeared in the post-infusion sample. The inhibitor suppression has allowed for extensive physical training and rehabilitation orthopaedic surgery. The patients are now able to conduct a normal haemophilic life on self-administered prophylactic doses of F VIII.

Adolescent↗
PubMed1987

An effect of predilution on VIII:C determination by the one-stage assay.

Factor VIII concentrates are usually prediluted in Owrens buffer, before use of the one-stage assay for VIII:C determinations. We found that predilution of high purity Factor VIII concentrates in fresh VIII:C deficient plasma gave VIII:C estimates about 3 times higher than predilution in Owrens buffer. Predilution in reconstituted lyophilized VIII:C deficient plasma gave VIII:C estimates about 1.6 times higher. Likewise the VIII:C in a plasma sample can be estimated to e.g. 0.03, 0.06 or 0.10 IU/ml depending on whether the reference curve is established by predilution of the reference plasma in fresh VIII:C deficient plasma, in reconstituted lyophilized VIII:C deficient plasma or in Owrens buffer, respectively. It is shown that the major part of the differences between the effects of the various prediluents on the VIII:C determinations, can be accounted for by differences in the content of Factor V, Fibrinogen, and vitamin K dependent coagulation factors in the assay mixtures.

Citrates↗
PubMed1987

Oral hairy leukoplakia in three hemophiliacs with human immunodeficiency virus infection.

Oral manifestations in AIDS, in AIDS-related complex, and in patients with antibodies to the AIDS-causing virus, human immunodeficiency virus (HIV), have been described previously. One of these manifestations, oral hairy leukoplakia, is apparently specifically associated with HIV infection and has until recently been reported in homosexual men only. This article demonstrates, among European patients, the occurrence of hairy leukoplakia in three patients belonging to another risk group for AIDS, namely HIV-infected hemophiliacs.

Acquired Immunodeficiency Syndrome↗
PubMed1985

Long-term high dose factor VIII treatment of 3 haemophiliacs with factor VIII inhibitor.

3 patients with haemophilia A and inhibitor against Factor VIII were developing progressive haemophiliac arthropathy due to the non-feasibility of prophylactic treatment. In order to suppress inhibitor formation, long-term treatment with high-dose Factor VIII (100 units per kg body weight twice daily) was initiated. Prothrombin complex concentrate was given only for bleeding episodes. Though all 3 patients were high responders, they presented different treatment courses. 2 became low responders after 4 and 11 months' treatment, respectively. 1 patient had no demonstrable inhibitor after start of treatment. In all 3 patients, prophylactic treatment was established, in 1 case still with increased doses compared to non-inhibitor patients. The high-dose Factor VIII treatment makes in possible to provide prophylactic treatment for the high-responder inhibitor patients. However, the extremely high costs represent a serious obstacle to this treatment.

Adolescent↗