[Inheritance and cancer].
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Genetic Predisposition to Disease↗
Biomedical subjects
Viggo Jønsson
Publications and source records attributed to Viggo Jønsson.
[Inheritance in lymphoproliferative disorders].
Lymphoproliferative disorders, especially chronic lymphocytic leukaemia (CLL), non-Hodgkin's lymphomas, Hodgkin's lymphoma and multiple myeloma are regarded as a hereditary entity with pleiotropic clustering in families, although the genuine alleles have not been found so far. The world-wide highest incidence of CLL and the existence of a systematic cancer registration since 1943 make Denmark a perfect place for epidemiological and genealogical investigations in the search for the genetics of the lymphoproliferative disorders. In Scandinavia, we see no signs of anticipation but marked linkage between parents and children, where the combination CLL in parent and CLL in child is more predominant than CLL in parent and a child with any other type of lymphoproliferative disorder. This same conservative pattern is also seen in parent-children transportation of non-Hodgkin's lymphomas and Hodgkin's lymphoma. That no certain linkage to other cancers can be significantly detected is discussed. A non-Mendelian mode of inheritance seems not unlikely in the familial clustering of the lymphoproliferative disorders.
Denmark↗
The influence of pregnancy on the development of autoimmunity in chronic lymphocytic leukemia.
To examine whether pregnancy influences the development of autoimmunity in chronic lymphocytic leukemia (CLL), we studied 591 consecutive CLL patients (202 post-menopausal women and 389 men). The mean observation time for all patients was 3.8 years, corresponding to approximately 2200 person-years of follow-up. Autoimmune manifestations were analyzed in 194 women with known obstetric history and known number of long-term sexual partners, and in the 389 male CLL patients for comparison. One hundred and fifty-nine of the CLL patients exhibited autoimmune manifestations, 38% in females and 21% in men. In female CLL patients, the frequency of autoimmunity and the number of pregnancies and the number of partners were strongly correlated. Each of the major autoimmune types approximately doubled in frequency for each additional pregnancy. The impact of pregnancy on expressed autoimmunity increased with each additional sexual partner (the odds of autoimmunity increased 11 times with each long-term sexual partner). The average numbers of pregnancies in female CLL patients with and without autoimmunity were 4.92 and 2.24, respectively (P < 0.001). Coombs' positive autoimmune anemia, a gastric ulcer with parietal cell autoantibodies and idiopathic thrombocytopenic purpura were equally common in women and men, whereas autoimmune thyroiditis, Sjögren's syndrome, rheumatoid arthritis and systemic lupus erythematosus were seen in higher rates in women than in men. The spectrum of autoimmunity suggests that pregnancy-related alloimmunization may be involved in the development of autoimmunity in CLL.
Autoantibodies↗
Anticipation in lymphoproliferative disorders.
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Age of Onset↗
CD56+ lymphoma with skin involvement: clinicopathologic features and classification.
BACKGROUND: Extranodal lymphomas expressing CD56 (neuronal cell adhesion molecule) are characterized by a high incidence of cutaneous involvement and a very aggressive clinical course. Knowledge about the prognosis and clinicopathologic features of CD56(+) lymphomas with skin involvement is very limited. OBJECTIVES: To determine survival and prognostic factors for extranodal CD56(+) lymphomas with skin involvement and to describe their clinicopathologic features. DESIGN: Retrospective literature survey and case studies. PATIENTS: A total of 181 patients with CD56(+) lymphoma involving the skin: 177 cases from the literature and 4 new cases. MAIN OUTCOME MEASURE: Survival and its dependence on the following putative prognostic factors: staging, histopathologic findings, lymphocyte markers, T-cell receptor gene rearrangement, Epstein-Barr virus infection, treatment modality. RESULTS: Three major subtypes of CD56(+) lymphoma in the skin were distinguished: blastic lymphoma, nasal-type natural killer-cell/T-cell lymphoma, and subcutaneous panniculitislike lymphoma. The disease disseminated readily, mainly to lymph nodes, bone marrow, the central nervous system, and the liver, but 45% of patients had a purely cutaneous disease at presentation. All subtypes had a very aggressive course with a median survival of 14 months. The main risk factors were age older than 55 years (hazard ratio [HR], 2.5; 95% confidence interval [CI], 1.8-3.2), systemic dissemination at presentation (HR, 2.0; 95% CI, 1.5-3.3), and lack of CD30 (HR, 3.8; 95% CI, 1.4-4.9) or CD4 expression (HR, 1.56; 95% CI, 1.06-2.57). The different treatment modalities did not improve survival. CONCLUSIONS: CD56(+) lymphomas involving the skin are rare and extremely aggressive regardless of their histologic presentation and the extent of skin involvement. No effective treatment is available. The risk of death is particularly increased in older patients with CD30(-)CD4(-) lymphomas.
Adult↗
99mTc-aprotinin scintigraphy in amyloidosis.
UNLABELLED: Changes in the amount and distribution of amyloid lesions have been difficult to monitor because they can usually be demonstrated only by evident symptoms or from a biopsy. The recent progress in the treatment of amyloidosis stresses the need for an early diagnosis and the need for noninvasive monitoring during the course of treatment. To validate (99m)Tc-aprotinin scintigraphy, we studied 23 consecutive patients with known or suspected amyloidosis. METHODS: (99m)Tc-Aprotinin (500-700 MBq) was injected intravenously and whole-body scans, regional images, and SPECT tomograms were obtained 90 min after tracer injection. RESULTS: Focal accumulations of (99m)Tc-aprotinin were seen in different organs of 22 patients with a total of 90 lesions, of which 20 were confirmed by biopsy or autopsy. Scintigraphy revealed "silent" amyloid deposits in at least 5 patients who later developed clinical symptoms. Physiologic uptake or excretion in liver and kidneys could not be differentiated from pathologic lesions in those organs. CONCLUSION: (99m)Tc-Aprotinin scintigraphy appears to be a fairly sensitive and specific diagnostic modality in patients with suspected amyloidosis. The technique is noninvasive, and it entails a minimal stress to the patient and is useful for detection of a wide range of lesions.
Adult↗
[Pregnancy-related thrombocytosis].
Pregnancy-related thrombocythaemia comprises myeloproliferative and inflammatory reactive subsets. In pregnant women treated for myeloproliferative disorders, especially polycythaemia vera and primary thrombocytosis, only 50-70 per cent are delivered successfully of a normal healthy baby. The maternal complications are cerebral, cardiac, and abdominal arterial thrombosis, and with deep venous thrombosis of the legs, whereas bleedings are mainly seen in the case of extreme thrombocythaemia, owing to absorption of factors by the platelets. The foetal complication are dominated by abruptio placentae, pre-eclampsia, placental insufficiency, and death. Reactive thrombocythaemia includes the physiological rise in platelets postpartum, believed to be part of the normal maternal haemostasis, which almost never causes thromboembolic complications, as far as is known today. In contrast, the inflammatory reactive thrombocythaemia, related to severe foetal and/or maternal necrosis, is generally related only to a moderate rise in the platelet count. As the blood-platelet count does not appear to be routine at general pregnancy check-ups, it is necessary to be aware of risk groups, consisting of women with otherwise unexplained abortions or stillbirths, unexplained foetal and placental malformations, and pre-eclampsia, even if the woman has never had any thromboembolic complications.
Anticoagulants↗
[Forty four pregnancies with idiopathic thrombocytopenic purpura].
INTRODUCTION: The aim of this project was to describe the course of pregnancy with idiopathic thrombocytopenic purpura (ITP) and to estimate risk factors and indications for treatment. MATERIAL AND METHODS: Birth, haematological, and neonatal files were examined retrospectively. RESULTS: Forty-eight ITP women with 55 pregnancies gave birth to 61 children, 59 live-born. The first singleton pregnancy in the observation period (the index pregnancy) was used for statistics, namely 44 index pregnancies. A maternal platelet fall from the first trimester to delivery was seen, as was a platelet rise three days after delivery (p < 0.0001), even in splenectomised women. Thirty-six per cent of the women had bleeding manifestations, none of which were fatal; 33% of the newborn infants had thrombocytopenia in cord blood. The following risk factors for perinatal thrombocytopenia were found: a sibling with thrombocytopenia, severe maternal thrombocytopenia, male gender. The nadir platelet count in the newborn infants was seen up to seven days after delivery. The presence of an older sibling with neonatal ITP is a risk factor for neonatal ITP in subsequent pregnancies. A significant association was found between the maternal platelet count in the second trimester and the platelet count in cord blood. DISCUSSION: The diagnosis and treatment of ITP in pregnancy are controversial. Vaginal delivery is generally recommended. The platelet kinetics in pregnancy with ITP is comparable with the platelet kinetics of the spleen.
Adult↗
Medical students' experience in practical skills is far from stakeholders' expectations.
This study compares medical graduates' experience in practical skills with a range of stakeholders' expectations. A questionnaire listing 58 practical skills was sent out to a group of graduating medical students. The medical students were asked to indicate their experience in each skill during medical school. A similar questionnaire was sent out to five groups of stakeholders asking for their expectations regarding graduates' experience. The stakeholders were: faculty members; consultants at clinical departments with interns in training; general practitioners; nurses; recently graduated junior doctors. A total of 472 questionnaires were sent out and 315 (67%) were returned. Medical graduates showed substantial variation in level of experience, and their experience was substantially lower than the expectations of the stakeholders. Nurses and junior doctors tended to have higher expectations compared with faculty members and consultants. Differences between our results and reports in the literature from elsewhere emphasize the importance of performing local needs assessments, and in this process stakeholders apart from faculty members should be involved.
Journal Article↗