Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study.

Genetically determined leukoencephalopathies comprise a group of rare inherited white matter disorders. The majority are progressive diseases resulting in early death. We performed a cross-sectional pilot study including 55 parents from 36 families to assess the level of stress experienced by parents of patients with genetically determined leukoencephalopathies, aged 1 month to 12 years. Thirty-four mothers and 21 fathers completed the Parenting Stress Index-4th Edition. One demographic questionnaire was completed per family. Detailed clinical data was gathered on all patients. Statistical analysis was performed with total stress percentile score as the primary outcome. Mothers and fathers had significantly higher stress levels compared with the normative sample; 20% of parents had high levels of stress whereas 11% had clinically significant levels of stress. Mothers and fathers had comparable total stress percentile scores. We identified pediatric behavioral difficulties and gross motor function to be factors influencing stress in mothers. Our study is the first to examine parental stress in this population and highlights the need for parental support early in the disease course. In this pilot study, we demonstrated that using the Parenting Stress Index-4th Edition to assess stress levels in parents of patients with genetically determined leukoencephalopathies is feasible, leads to valuable and actionable results, and should be used in larger, prospective studies.

Patient with acute B-cell leukemia of Burkitt's type (L3) and marker chromosomes including an (8;14) translocation.

A 20-year-old man with acute B-cell leukemia of Burkitt's type (L3) presenting unusual début symptoms with jaw involvement is reported. The leukemic cells revealed chromosomal abnormalities including four marker chromosomes [1q+, 6q-, t(8;14)].

[Late side-effects are common after treatment of Hodgkin's disease. Muscular atrophy following radiotherapy is a neglected risk]. / Ofta sena biverkningar av Hodgkinbehandling. Muskelatrofi förbisedd risk efter radioterapi.

As Hodgkin's disease (HD) is amenable to treatment, especially in the young, the majority of patients are long-term survivors and late treatment-related side-effects can become a clinical problem. After a retrospective review of the records of 134 patients treated for HD at Umeå during the period, 1975-90, and 15-50 years of age at diagnosis, a questionnaire on late side-effects of treatment was sent to the 110 survivors, of whom 90 per cent responded. Many patients reported late side-effects such as hypothyroidism, dryness of the mouth, cardiac and pulmonary problems, and fertility disorders. Of the 20 patients who reported pain and weakness of the neck and shoulders, 18 had undergone mantle field irradiation (i.e., of the lymph nodes of the neck, axillae and mediastinum). If shown to be equally effective, lower irradiation doses might be given in future, thus perhaps minimising long-term side-effects.

An outbreak of Escherichia coli O157:H7 infection in southern Sweden associated with consumption of fermented sausage; aspects of sausage production that increase the risk of contamination.

A large outbreak of enterohaemorrhagic Escherichia coli (EHEC) infections occurred in southern Sweden during autumn 2002. A matched case-control study was performed and indicated an association between consumption of fermented sausage and EHEC infection (odds ratio 5.4, P<0.002). Pulsed-field gel electrophoresis analysis identified a strain of E. coli O157:H7 in clinical faecal isolates, which was identical to a strain isolated from sausage samples obtained from households of infected individuals. A combination of microbiological and epidemiological results established a link between sausage consumption and the outbreak in 30 out of a total of 39 investigated cases. Contaminated beef was suspected to be the source of infection. Delayed start of fermentation, lack of heat-treatment and a short curing period in cold temperature were identified as the main factors enabling EHEC survival. EHEC can survive throughout the entire production process of fermented sausage if curing conditions are inadequate.

Chronic lymphocytic leukemia: a retrospective study of 122 cases.

During the period 1978-1982 in the three northernmost countries of Sweden all 143 patients with a registered diagnosis of chronic lymphocytic leukemia (CLL) were retrospectively analyzed. After re-evaluation, 122 cases remained in the study. The mean age was 71 years and the male/female ratio was 2.2:1. Sixty-one patients were Binet stage A, 29 stage B and 32 stage C. The diagnosis CLL was made after routine check-up for other diseases in most of the patients and they had no symptoms from the CLL. The median survival was 51 months and there were no differences in crude survival according to stage or other prognostic factors such as hemoglobin, lymphocytes or thrombocytes in peripheral blood. Analysis of CLL as a cause of specific mortality showed the stage of CLL to have a slight prognostic significance. This could be due to the fact that many of the patients suffered from other serious diseases, allowing the detection of early stage or advanced CLL with no symptoms.

Non-Hodgkin's lymphoma in northern Sweden. Prognostic factors and response to treatment.

A total of 352 cases of non-Hodgkin's lymphoma reported to the Cancer Registry of Northern Sweden during 1978-1982 were retrospectively analysed. After morphologic review, 327 cases classifiable as low (n = 162) or high-grade (n = 165) according to the Kiel classification remained for further study. The purpose of the study was to evaluate the interrelations between some variables and their bearing on prognosis in an almost unselected clinical material. Age, morphological grade of malignancy, clinical stage, systemic symptoms, bulk of disease and serum lactate dehydrogenase (LDH) level turned out to be associated with the clinical outcome in terms of response to treatment, disease-free survival and survival. In the heterogenous group of low-grade lymphoma, six pretreatment characteristics were negatively associated with survival in a univariate analysis, namely; stage II-IV, systemic symptoms, bone marrow infiltration, two or more extranodal sites, elevated LDH and age above 65 years. In high-grade lymphoma, stage II-IV, bone marrow infiltration and elevated LDH predicted a worse prognosis in a multivariate analysis. The impact of the number of these prognostic factors on survival in high-grade lymphoma was demonstrated.

Prognostic significance of serum lactic dehydrogenase levels and fraction of S-phase cells in non-Hodgkin lymphomas.

Sixty-four untreated patients with non-Hodgkin lymphomas (NHL) were analyzed with respect to fraction of S-phase cells in tumor material and serum lactic dehydrogenase (LD) levels. A significant correlation between the two variables was found in the low-grade (LGM) (r = 0.44, p < 0.01), but not in the high-grade (HGM) lymphomas. Shorter survival times were found for patients with tumors showing a high fraction of S-phase cells (> 4%) (p < 0.001) as well as for patients with elevated LD values (> or = 7.5 mukat/l) (p < 0.001). A multivariate analysis showed clinical stage (p < 0.001), S-phase fraction (p = 0.002) and age (p = 0.002) to be independent prognostic factors. For serum LD a borderline value (p = 0.05) was found, whereas morphology and B-symptoms were non-significant. LD level, but not fraction of S-phase cells, added prognostic information for LGM lymphomas (p < 0.001). For HGM lymphomas, the clinical stage was the strongest factor for prediction of prognosis. We conclude that the fraction of S-phase cells describes the biological behavior in a more reliable way than morphology (HGM vs LGM) and better identifies lymphomas with poor or good prognosis. The strong additional prognostic information obtained by serum LD within LGM lymphomas is assumed to be due to an association with the tumor burden.

Ig-gene and T-cell receptor gene rearrangements in a secondary, mono-histiocytic malignancy.

In 1984, a 21-year-old male was diagnosed with an acute lymphoblastic leukemia of pre-B cell type. Treatment with chemotherapy, including alkylating agents and prophylactic radiotherapy to the central nervous system, induced a complete remission. In June 1990, a biopsy from a supraclavicular node revealed a malignancy of mono-histiocytic type with erythrophagocytosis. Soon thereafter bone marrow involvement was found. No remission was achieved and the patient died in December 1990. DNA from bone marrow and lymph node obtained 1990 showed clonal rearrangements of both the immunoglobulin heavy-chain gene and the T-cell receptor gamma chain gene. This unusual case illustrates a typical secondary malignancy proven to be separate from the primary neoplasm judged by morphological appearance, immunophenotype and cytogenetic constitution. Coexistent clonal rearrangements of immunoglobulin and T-cell receptor genes have been reported in acute non-lymphoblastic leukemias and notably in cases expressing TdT, interpreted as a predominant lymphoid commitment of the tumor cells. In the present case, however, the malignant cells had a differentiated phenotype and showed erythrophagocytosis, indicating a more mature mono-histiocytic cell type. However, also CD3 expression was found by immunohistochemistry of frozen sections which might indicate a biphenotypic malignancy.

Non-Hodgkin's lymphoma in northern Sweden. A retrospective analysis of morphologic diagnosis and stage in a material from the Swedish Cancer Registry.

Morphologic diagnosis and clinical stage were studied in a retrospective material of non-Hodgkin's lymphomas comprising 352 patients diagnosed 1978 until 1982 and reported to a regional cancer registry. Classification was made according to the original Kiel classification. Patients who could be classified as belonging to low- (46%) or high-grade (47%) malignancy groups (n = 337) were further studied. The median age was high, 65 years, which probably reflects the low degree of selection in a regional register material compared to most hospital register-based materials. The proportion of stage I cases was rather high, in low-grade lymphomas 24%, and in high-grade 39%, which can be attributed to incomplete staging procedures in old patients. The aim of the study was to illustrate the distribution according to morphologic subclasses and clinical features in a material with a low degree of patient selection.

High-grade non-Hodgkin's lymphoma stage I. A retrospective study of treatment, outcome and prognostic factors in 213 patients.

In a retrospective study of 213 patients with high-grade non-Hodgkin's lymphomas clinical stage I, diagnosed 1985-1990, pretreatment prognostic variables and result of treatment were analysed. The median age of the patients was 67 years. Treatment consisted of radiotherapy in 61%, chemotherapy (10%) chemotherapy followed by radiotherapy (23%) and surgery alone (5%) of the patients. Complete response was achieved in 89% of the patients with estimated relapse-free survival at 5 years of 73%. Relative 5-year survival of all patients was 73%. After chemotherapy followed by radiotherapy the relapse rate was 15% compared with 29% after radiotherapy only. The 5-year relative survival differed between 58% and 74% in the treatment groups. Age, sex, nodal versus extranodal lymphoma, systemic symptoms, bulk of tumor and level of serum lactic dehydrogenase (s-LDH) were analysed as prognostic factors. In multivariate variate analysis, only age 65 years or older and elevated s-LDH were significant independent adverse prognostic factors.

Genetic characterization and antibiotic resistance of Campylobacter jejuni isolated from meats, water, and humans in Sweden.

The incidence of Campylobacter jejuni has increased during the last decade, and today it is the leading cause of bacterial enteritis in most developed countries. Still, there is a lack of knowledge about infection routes and to what extent identified sources are responsible for spreading the bacterium to humans. The major objective of this work was to explore the genetic similarity between C. jejuni isolated from different sources. C. jejuni isolated from patients (n = 95), five types of meat (n = 71), and raw water (n = 11) during the year 2000 were subtyped by pulsed-field gel electrophoresis (PFGE). The pulsotypes obtained after digestion with SmaI revealed not only that C. jejuni is genetically diverse but also that specific pulsotypes occur frequently. Five clusters comprising 88 of the 162 SmaI-digested isolates were obtained. After digestion with KpnI most isolates in four of the five clusters were still indistinguishable, while the fifth cluster was strongly dissolved. The clusters comprised high frequencies of human and meat isolates, while only one of nine water isolates belonged to a cluster. The largest cluster comprised 21 human isolates, one raw water isolate, and seven chicken meat isolates, originating from at least six different broiler flocks. Low frequencies of antibiotic resistance were revealed when the meat and water isolates were tested for sensitivity to six antibiotics. Interestingly, the five isolates resistant to quinolones displayed similar or identical pulsotypes. The results showed that PFGE has proved useful in identifying clones and will be used in future work focusing on identification and eradication of the major reservoirs for common clones.

Febrile gastroenteritis after eating on-farm manufactured fresh cheese--an outbreak of listeriosis?

An outbreak of febrile gastroenteritis affected consumers of on-farm manufactured dairy products from a summer farm in Sweden. Symptoms included diarrhoea, fever, stomach cramps and vomiting in 88, 60, 54 and 21% of cases identified. The median incubation period was 31 h. A cohort study with 33 consumers showed an attack rate of 52% and an association between the total amount of product eaten and illness (P=0.07). Twenty-seven of 32 (84%) stool samples cultured for Listeria monocytogenes tested positive, although there was no association between clinical disease and the isolation of L. monocytogenes. In addition, gene sequences for VTEC and ETEC were detected in 6 and 1 subjects, respectively. Bacteriological analysis of cheese samples revealed heavy contamination with L. monocytogenes and coagulase positive staphylococci in all of them and gene markers for VTEC in one of them. Molecular profiles for L. monocytogenes isolated from dairy products, stool samples and an abscess from 1 patient who developed septic arthritis were identical. Results of both microbiological and epidemiological analyses point to L. monocytogenes as the most likely cause of this outbreak. The finding of markers for VTEC in some humans and cheese samples means that a mixed aetiology at least in some cases cannot be conclusively ruled out.