MLL/GAS7 fusion in a pediatric case of t(11;17)(q23;p13)-positive precursor B-cell acute lymphoblastic leukemia

AML/GAS7, resulting from t(11;17)(q23;p13), has been reported in one case of treatment-related acute myeloid leukemia (AML). We present a de novo case of t(11;17)-positive pediatric acute lymphoblastic leukemia. Fluorescent in situ hybridization and reverse transcriptase polymerase chain reaction analyses revealed an MLL/GAS7 chimera identical to the one previously described in AML. The molecular genetic features of MLL/GAS7 and the clinical impact of t(11;17) are discussed

Patients with ankylosing spondylitis have increased sick leave—a registry-based case–control study over 7 yrs

Objectives. Using prospectively collected registry data to investigate sick leave (sickness benefit and sickness compensation) over a 7-yr period in patients with AS in comparison with population-based controls matched for age, sex and residential area

Study circles improve the precision in nutritional care in special accommodations

Background: Disease-related malnutrition is a major health problem in the elderly population, but it has until recently received very little attention, especially are management issues under-explored. By identifying residents at the risk of undernutrition, appropriate nutritional care can be provided. Objectives: Do study circles and policy documents improve the precision in nutritional care and decrease the prevalence of low or high BMI? Design: Pre and post intervention study. Setting: Special accommodations (nursing homes) within six municipalities were involved. Participants: In 2005, 1726 (90.4%) out of 1910 residents agreed to participate and in 2007, 1526 (81.8%) out of 1866 residents participated. Intervention: Study circles in one municipality, having a policy document in one municipality and no intervention in four municipalities. Measurements: Risk of undernutrition was defined as involving any of: involuntary weight loss, low BMI, and/or eating difficulties. Overweight was defined as high BMI. Results: In 2005 and 2007, 64% of 1726 and 66% of 1526 residents respectively were at the risk of undernutrition. In 2007 significantly more patients in the study circle municipality were accurately provided protein and energy enriched food compared to in the no intervention municipalities. There was a decrease in the prevalence of low BMI in the study circle municipality and the prevalence of overweight increased in the policy document municipality between 2005 and 2007

Performance in Physical Education and Health Impairment 30 Years Later—A Community Based Cohort Study

Objective: A main purpose of physical education (PE) in school is to promote future health. However, there is very limited evidence of the effects of PE on the adult health. We hypothesized that a low performance in PE was associated with an increased risk of health impairment by middle age. Methods: We performed a cohort study in a community-based setting in Sweden spanning over three decades. We followed up on 1712 of 2225 students (76.9%) who in 1974–1976 graduated with a grade in PE after 9 years of education (mean subject age 16 years). The grade in PE (compulsory subject) was retrieved from municipal archives. We defined three proxies for health impairment: total number of visits to primary care physicians in 2003–2007, having been hospitalized 2003–2007, and total number of days with sick leave in 2004–2007. Using binomial regression models, we adjusted the risk estimates for level of education and occupation. Subjects with an average grade in PE served as reference category. Results: In both the crude and adjusted model, women with a low grade in PE had more physician visits (adjusted IRR 1.30, 95 % confidence interval 1.06–1.60) and an increased number of days with sick leave (adjusted IRR 1.44, 1.05–1.95). An increased, although not significant, risk was also observed for having received in-patient care (adjusted RR 1.26; 0.88–1.80). No significant results or similar pattern were observed in men. Conclusion: Women with a low grade in PE in adolescence seem to have an increased risk of health impairment by middl

MYC-containing double minutes in hematologic malignancies: evidence in favor of the episome model and exclusion of MYC as the target gene

Double minutes (dmin)-circular, extra-chromosomal amplifications of specific acentric DNA fragments-are relatively frequent in malignant disorders, particularly in solid tumors. In acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), dmin are observed in approximately 1% of the cases. Most of them consist of an amplified segment from chromosome band 8q24, always including the MYC gene. Besides this information, little is known about their internal structure. We have characterized in detail the genomic organization of 32 AML and two MDS cases with MYC-containing dmin. The minimally amplified region was shown to be 4.26 Mb in size, harboring five known genes, with the proximal and the distal amplicon breakpoints clustering in two regions of approximately 500 and 600 kb, respectively. Interestingly, in 23 (68%) of the studied cases, the amplified region was deleted in one of the chromosome 8 homologs at 8q24, suggesting excision of a DNA segment from the original chromosomal location according to the 'episome model'. In one case, sequencing of both the dmin and del(8q) junctions was achieved and provided definitive evidence in favor of the episome model for the formation of dmin. Expression status of the TRIB1 and MYC genes, encompassed by the minimally amplified region, was assessed by northern blot analysis. The TRIB1 gene was found over-expressed in only a subset of the AML/MDS cases, whereas MYC, contrary to expectations, was always silent. The present study, therefore, strongly suggests that MYC is not the target gene of the 8q24 amplifications

Clinical features of idiopathic inflammatory polymyopathy in the Hungarian Vizsla

Background A retrospective study of the clinicopathological features of presumed and confirmed cases of idiopathic inflammatory polymyopathy in the Hungarian Vizsla dog and guidelines for breeding. Results 369 medical records were reviewed (1992–2013) and 77 Hungarian Vizslas were identified with a case history consistent with idiopathic inflammatory polymyopathy. Inclusion criteria were: group 1 (confirmed diagnosis); histopathology and clinical findings compatible with an inflammatory polymyopathy and group 2 (probable diagnosis); clinical findings compatible with a polymyopathy including dysphagia, sialorrhea, temporal muscle atrophy, elevated serum creatine kinase (CK) activity, and sufficient clinical history to suggest that other neuromuscular disorders could be ruled out. Some group 2 dogs had muscle biopsy, which suggested muscle disease but did not reveal an inflammatory process. The mean age of onset was 2.4 years; male dogs were slightly overrepresented. Common presenting signs were dysphagia, sialorrhea, masticatory muscle atrophy, and regurgitation. Common muscle histopathological findings included degenerative and regenerative changes, with multifocal mononuclear cell infiltration with lymphoplasmacytic myositis of variable severity. A positive response to immunosuppressive treatment supported an immune-mediated aetiology. The mean age at death and survival time were 6.4 and 3.9 years, respectively. Recurrence of clinical signs and aspiration pneumonia were common reasons for euthanasia. Conclusions Diagnosis of Vizsla idiopathic inflammatory polymyopathy can be challenging due to lack of specific tests, however the presence of dysphagia, regurgitation and masticatory muscle atrophy in this breed with negative serological tests for masticatory muscle myositis and myasthenia gravis, along with muscle biopsies suggesting an inflammatory process, support the diagnosis. However, there is an urgent need for a more specific diagnostic test. The average of inbreeding coefficient (CoI) of 16.3% suggests an increased expression of a Dog Leukocyte Antigen Class II haplotype, leading to an increased disease risk. The prognosis remains guarded, as treatment can only manage the disease. Recurrence of clinical signs and perceived poor quality of life are the most common reasons for humane euthanasia.</p

Health care quality indicators on the management of rheumatoid arthritis and osteoarthritis: a literature review

Objective. To make an inventory of quality and content of currently available and published sets of health care quality indicators (HCQIs) for RA and OA. Methods. A systematic review was performed for documents on the development and/or a description of HCQIs for the management of patients with RA and/or OA, using the PubMed, EMBASE, Web of Science, Cochrane and CINAHL databases up to 1 December 2010 and official websites of arthritis organizations. The following data were extracted: general characteristics, contents and quality of developmental process (six aspects related to the definition of target, target group and stakeholders, patient involvement, description of development and test of validity). Results. The search yielded 498 potentially eligible references and two websites, with ultimately six original HCQI sets for RA and/or OA being identified (one for RA and OA, two for OA and three for RA). The number of HCQI ranged from 7 to 27, with the majority being process indicators. No conflicting indicators between the HCQI sets for one condition were seen. Concerning the quality of the developmental process, all six sets lacked patient involvement. Conclusion. Only a limited number of HCQI sets for the management of OA and RA are available, mainly including process indicators. The developmental process was methodologically suboptimal in all cases. As improvement of health care quality is an ongoing process, there is a need for development of HCQIs covering different aspects of health care quality (structure, process and outcome) and using appropriate methodology.Optimising joint reconstruction management in arthritis and bone tumour patient