56 research outputs found

    Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

    Get PDF
    We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered

    Suicide among persons with childhood leukaemia in Slovenia

    Get PDF
    Pri osebah, ki so v otroštvu zbolele za rakom, so pogosto prisotne telesne in psihosocialne posledice bolezni ter njenega zdravljenja. Mnoge raziskave so pokazale, da je pri osebah z izkušnjo raka v otroštvu depresivnost in samomorilno vedenje močneje izraženo. V naši raziskavi smo proučili pojavljanje samomorov pri osebah, ki so v otroštvu zbolele za levkemijo, v primerjavi s splošno populacijo v Sloveniji, v obdobju 1978–2010. Pričakovano število samomorov smo izračunali na osnovi kontrolne skupine posameznikov iz splošne populacije, ki je bila s skupino preiskovancev, tj. oseb, ki so v otroštvu zbolele za levkemijo, izenačena po spolu, starosti ob začetku opazovanja, letu začetka opazovanja in dolžini opazovanja. Raziskava je pokazala, da med tistimi, ki so v otroštvu zboleli za levkemijo, v letih 1978–2010 nobena oseba ni storila samomora, kar se statistično značilno ne razlikuje od pričakovanega števila samomorov (0,448) v primerljivi splošni populaciji v Sloveniji. Ugotovitve raziskave nakazujejo, da kljub znano bolj izraženem samomorilnem vedenju med preživelimi raka v otroštvu v Sloveniji v primerjavi s splošno populacijo pojavljanje samomorov pri osebah, zbolelih za levkemijo v otroštvu, ni pogostejše kot v splošni populaciji.Persons with childhood leukaemia often suffer from physical and psychosocial consequences of the disease and its treatment. Several studies have shown that depression and suicidal behaviour are expressed strongly in persons with a childhood cancer experience. In our study, we researched the occurrence of suicides among persons with childhood leukaemia compared to the general population in Slovenia in the period 1978–2010. The expected number of suicides was calculated based on the control group of individuals from the general population with the same gender, age at the beginning of observation, starting year and duration of observation as the research group, thus group of persons with childhood cancer. The study showed that none of the persons with childhood cancer committed suicide in the period 1978-2010, which is not statistically different from the expected number of suicides (0.448) in comparison with the general population in Slovenia. The findings of this study indicate that, despite the significantly increased expression of suicidal behaviour among survivors of childhood leukaemia in Slovenia compared to the general population, suicides do not occur more often among people with childhood leukaemia than among the general population

    Towards a Mastery Understanding of Critical Reading in Biology: The Use of Highlighting by Students to Assess Their Value Judgment of the Importance of Primary Literature

    No full text
    <p>An analysis of critical reading styles of freshmen and senior biology students was compared to that of biology faculty members through the use of highlighting a primary research article. Sentenceby-sentence comparisons were made within each group and the data were analyzed; the composite picture from each group was then compared to the other groups. There appears to be a close agreement of what is deemed important content as judged by faculty but less agreement by seniors and even less agreement by freshmen regarding the value of each line of the text. The results imply that experts in a field appear able to discriminate what is important and valuable in the primary literature and that the novice appears to develop some degree of scientific literacy during his or her undergraduate career.</p

    Local treatment for recurrent colorectal hepatic metastases after partial hepatectomy.

    Get PDF
    Item does not contain fulltextOBJECTIVE: The objective of the study was to identify patients who may benefit from local treatment in recurrent colorectal liver metastases. MATERIALS AND METHODS: A total of 51 consecutive patients were treated for hepatic recurrence(s) after an initial partial hepatic resection. Surgery was considered as the primary treatment option for eligible patients. Patients with a small liver remnant after major hepatectomy were treated with radiofrequency ablation (RFA) or stereotactic body radiation therapy (SRx). SRx was given as an outpatient, emerging local treatment option for patients with intra-hepatic recurrences not eligible for surgery or RFA. Partial liver resection was performed in 36 patients (70%), RFA in ten patients (20%), and SRx in five patients (10%). RESULTS: Median hospital stay was 7 (range, 3-62) days with a morbidity of 16% without in-hospital death. None of the patients received adjuvant chemotherapy. There was no difference in recurrence or survival between the three treatment modalities. Overall 5-year survival was 35% with an estimated median survival of 37 months. Patients with a disease-free interval between first hepatectomy and hepatic recurrence less than 6 months did not survive 3 years. CONCLUSIONS: Resection, RFA, and SRx can be performed safely in patients with recurrent colorectal liver metastases and offer a survival that seems comparable to primary liver resections of colorectal liver metastases
    corecore