426 research outputs found

    Population ecology of Phaleria acuminata (Coleoptera : Tenebrionidae) from sandy beaches in the Maltese Islands

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    Populations of the beetle Phaleria acuminata fromfour beaches on the Maltese Islands were sampled for six consecutive seasons to investigate changes in population size, sex ratio, reproductive state and distribution on the shore. The populations on all the beaches showed a small decrease in numbers from spring to summer and a pronounced drop from summer to autumn, with a dramatic increase between winter and spring. Male to female sex ratio varied between 1:1 and 1:1.5. Females of all reproductive stages occurred throughout the year. There were little seasonal differences in distribution of beetles in the wet and dry zones.peer-reviewe

    Reporting of Harm in Randomized Controlled Trials of Therapeutic Exercise for Knee Osteoarthritis: A Systematic Review

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    Objective: The Consolidated Standards of Reporting Trials (CONSORT) recommends reporting adverse events (AEs) and dropouts (DOs) with their definitions. The purpose of this study was to identify how AEs and DOs were reported in randomized controlled trials (RCTs) of therapeutic exercise for knee osteoarthritis (OA). Methods: Data sources were the Cochrane Library, EMBASE, PUBMED, and CINAHL. Databases were searched to identify RCTs of therapeutic exercise for Knee OA published from January 1, 1980, through July 23, 2020. Researchers independently extracted participant and intervention characteristics and determined whether a clear statement of and reasons for AEs and DOs existed. The primary outcome was exercise-related harm. Physiotherapy Evidence Database (PEDro) scoring described study quality and risk of bias. Descriptive and inferential statistics characterized results. Meta-analysis was not performed due to data heterogeneity. Results: One hundred 13 studies (152 arms) from 25 countries were included with 5909 participants exercising. PEDro scores ranged from 4 to 9. Exercise intensity was not specified in 57.9% of exercise arms. Fifty studies (44.2%) included an AE statement and 24 (21.2%) reported AEs, yielding 297 patients. One hundred three studies (91.2%) had a DO statement. Sixteen studies (15.5%) provided reasons for DOs that could be classified as AEs among 39 patients, yielding a 13.1% increase in AEs. Thus, 336 patients (6.0%) experienced exercise-related harm among studies with a clear statement of AEs and DOs. A significant difference existed in misclassification of DOs pre- and post-CONSORT 2010 (12.2% vs 3.1%; X21 = 21.2). Conclusions: In some studies, the reason for DOs could be considered AEs, leading to potential underreporting of harm. Improvements in reporting of harm were found pre-and post-CONSORT 2010. Greater clarity regarding AE and DO definitions and TherEx intensity are needed to determine safe dosing and mode of therapeutic exercise for knee OA. Impact: More adherence to the CONSORT statement is needed regarding reporting of and defining AEs, DOs, and therapeutic exercise intensity; however, despite this, therapeutic exercise seems to be associated with minimal risk of harm

    Przeszczepienie allogenicznych krwiotwórczych komórek macierzystych poprzedzone leczeniem ruksolitynibem u chorej na mielofibrozę wtórną do nadpłytkowości samoistnej, z trombofilią wrodzoną z mutacją genu protrombiny G20210A

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    W pracy zaprezentowno przypadek 37-letniej chorej, u której rozpoznano nadpłytkowość samoistną z obecnością mutacji JAK2 V617F, a następnie, po 4 latach, transformację do mielofibrozy. Przy rozpoznaniu mielofibrozy obserwowano nasilenie objawów ogólnych, szybką progresję splenomegalii, pojawienie się niedokrwistości z zależnością od przetoczeń kkcz, małopłytkowości oraz ewolucji klonalnej w kariotypie szpiku kostnego. Dodatkowo wystąpiły powikłania zakrzepowe, ostra proksymalna zakrzepica żył głębokich lewej kończyny dolnej, wymagająca leczenia, a następnie wtórnej profilaktyki przeciwzakrzepowej heparyną drobnocząsteczkową. Po zastosowaniu hydroksykarbamidu, w dalszej kolejności małych dawek arabinozydu cytozyny nie uzyskano zmniejszenia rozmiarów śledziony ani poprawy w zakresie cytopenii czy ograniczenia objawów ogólnych. Rozpoczęto leczenie inhibitorem JAK1/2 — ruksolitynibem. Po 6 miesiącach uzyskano redukcję splenomegalii, ustąpienie objawów ogólnych, uniezależnienie się od przetoczeń kkcz oraz przeprowadzono allo-HSCT w okresie poprawy hematologicznej. W toku pogłębionej diagnostyki zaburzeń krzepnięcia wykryto mutację genu protrombiny G20210A, rozpoznano trombofilię wrodzoną, kontynuowano wtórną profilaktykę przeciwzakrzepową rywaroksabanem. W ocenie hematologicznej po 2 latach od przeprowadzenia allo-HSCT stwierdzono prawidłową morfologię oraz rozmaz krwi obwodowej, 100% DNA dawcy we krwi chorej w badaniu chimeryzmu metodą STR-PCR, nie wykazano cech morfologicznych mieloproliferacji w badaniu histopatologicznym szpiku kostnego, nie wykryto mutacji JAK2 w badaniu ARMS-PCR szpiku kostnego

    The isolated extramedullary breast relapse in patient with inv(16)(p13;q22) and CBFB-MYH11 acute myeloid leukemia following allogeneic hematopoietic stem cell transplantation — case report and review of the literature

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    Ostra białaczka szpikowa (AML) rzadko występuje w lokalizacji pozaszpikowej jako izolowanynowotwór nazywany mięsakiem granulocytarnym lub jako wznowa pozaszpikowa. W pracyprzedstawiono przypadek chorej na AML z inwersją chromosomu 16 i genem fuzyjnym CBFB--MYH11, poddanej allogenicznemu przeszczepieniu krwiotwórczych komórek macierzystych(allo-HSCT), u której wystąpiła wznowa pozaszpikowa w prawym gruczole piersiowym, równolegleze wznową molekularną w szpiku. Zastosowana chemioterapia wraz z radioterapiąpozwoliła na uzyskanie całkowitej remisji białaczki, potwierdzonej również w badaniach obrazowychza pomocą tomografii komputerowej i pozytonowej tomografii emisyjnej. W dyskusjiautorzy omawiają możliwe czynniki ryzyka wpływające na występowanie pozaszpikowychwznów oraz przytaczają najważniejsze wnioski z metaanalizy dotyczącej wyłącznie wznówpozaszpikowych AML w gruczole piersiowym.Acute myeloid leukemia (AML) occurs extramedullary very rarely as relapse or an isolatedtumor called granulocytic sarcoma. We present a patient with AML and inversion of16 chromosome including CBFB-MYH11 fusion gene after allogeneic hematopoietic stem celltransplantation (allo-HSCT). The extramedullary relapse involving right breast was diagnosedsimultaneously with molecular relapse in the bone marrow. The complete remission wasachieved after combined treatment composed of chemo- and radiotherapy. The images incomputed tomography and positron emission tomography confirmed total regression of tumor.The authors discuss the risk factors in extramedullary relapse occurrence and review majorresults of the latest meta-analysis concerning breast relapses of AML

    Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

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    Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of BC or OC for women who carry a pathogenic mutation in the high-risk BC and OC genes BRCA1 or BRCA2. The combined effects of these variants on BC or OC risk for BRCA1 and BRCA2 mutation carriers have not yet been assessed while their clinical management could benefit from improved personalized risk estimates. Methods: We constructed polygenic risk scores (PRS) using BC and OC susceptibility SNPs identified through population-based GWAS: for BC (overall, estrogen receptor [ER]-positive, and ER-negative) and for OC. Using data from 15 252 female BRCA1 and 8211 BRCA2 carriers, the association of each PRS with BC or OC risk was evaluated using a weighted cohort approach, with time to diagnosis as the outcome and estimation of the hazard ratios (HRs) per standard deviation increase in the PRS. Results: The PRS for ER-negative BC displayed the strongest association with BC risk in BRCA1 carriers (HR = 1.27, 95% confidence interval [CI] = 1.23 to 1.31, P = 8.2 x 10(53)). In BRCA2 carriers, the strongest association with BC risk was seen for the overall BC PRS (HR = 1.22, 95% CI = 1.17 to 1.28, P = 7.2 x 10(-20)). The OC PRS was strongly associated with OC risk for both BRCA1 and BRCA2 carriers. These translate to differences in absolute risks (more than 10% in each case) between the top and bottom deciles of the PRS distribution; for example, the OC risk was 6% by age 80 years for BRCA2 carriers at the 10th percentile of the OC PRS compared with 19% risk for those at the 90th percentile of PRS. Conclusions: BC and OC PRS are predictive of cancer risk in BRCA1 and BRCA2 carriers. Incorporation of the PRS into risk prediction models has promise to better inform decisions on cancer risk management

    BRCA2 polymorphic stop codon K3326X and the risk of breast, prostate, and ovarian cancers

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    Background: The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There is scant information about the effect of K3326X in other hormone-related cancers. Methods: Using weighted logistic regression, we analyzed data from the large iCOGS study including 76 637 cancer case patients and 83 796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant. Using Cox proportional hazards modeling, we also examined the associations of K3326X with breast and ovarian cancer risks among 7183 BRCA1 variant carriers. All statistical tests were two-sided. Results: The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9x10- 6) and invasive ovarian cancer (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8x10-3). These associations were stronger for serous ovarian cancer and for estrogen receptor–negative breast cancer (ORw = 1.46, 95% CI = 1.2 to 1.70, P = 3.4x10-5 and ORw = 1.50, 95% CI = 1.28 to 1.76, P = 4.1x10-5, respectively). For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer. No association with prostate cancer was observed. Conclusions: Our study provides evidence that the K3326X variant is associated with risk of developing breast and ovarian cancers independent of other pathogenic variants in BRCA2. Further studies are needed to determine the biological mechanism of action responsible for these associations

    Life and living in advanced age: a cohort study in New Zealand - Te Puāwaitanga o Nga Tapuwae Kia Ora Tonu, LiLACS NZ: Study protocol

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    The number of people of advanced age (85 years and older) is increasing and health systems may be challenged by increasing health-related needs. Recent overseas evidence suggests relatively high levels of wellbeing in this group, however little is known about people of advanced age, particularly the indigenous Māori, in Aotearoa, New Zealand. This paper outlines the methods of the study Life and Living in Advanced Age: A Cohort Study in New Zealand. The study aimed to establish predictors of successful advanced ageing and understand the relative importance of health, frailty, cultural, social & economic factors to successful ageing for Māori and non-Māori in New Zealand

    Plasma concentrations of soluble IL-2 receptor α (CD25) are increased in type 1 diabetes and associated with reduced C-peptide levels in young patients.

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    AIMS/HYPOTHESIS: Type 1 diabetes is a common autoimmune disease that has genetic and environmental determinants. Variations within the IL2 and IL2RA (also known as CD25) gene regions are associated with disease risk, and variation in expression or function of these proteins is likely to be causal. We aimed to investigate if circulating concentrations of the soluble form of CD25, sCD25, an established marker of immune activation and inflammation, were increased in individuals with type 1 diabetes and if this was associated with the concentration of C-peptide, a measure of insulin production that reflects the degree of autoimmune destruction of the insulin-producing beta cells. METHODS: We used immunoassays to measure sCD25 and C-peptide in peripheral blood plasma from patient and control samples. RESULTS: We identified that sCD25 was increased in patients with type 1 diabetes compared with controls and replicated this result in an independent set of 86 adult patient and 80 age-matched control samples (p = 1.17 × 10(-3)). In 230 patients under 20 years of age, with median duration-of-disease of 6.1 years, concentrations of sCD25 were negatively associated with C-peptide concentrations (p = 4.8 × 10(-3)). CONCLUSIONS/INTERPRETATION: The 25% increase in sCD25 in patients, alongside the inverse association between sCD25 and C-peptide, probably reflect the adverse effects of an on-going, actively autoimmune and inflammatory immune system on beta cell function in patients

    Global assessment of marine plastic exposure risk for oceanic birds

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    Plastic pollution is distributed patchily around the world’s oceans. Likewise, marine organisms that are vulnerable to plastic ingestion or entanglement have uneven distributions. Understanding where wildlife encounters plastic is crucial for targeting research and mitigation. Oceanic seabirds, particularly petrels, frequently ingest plastic, are highly threatened, and cover vast distances during foraging and migration. However, the spatial overlap between petrels and plastics is poorly understood. Here we combine marine plastic density estimates with individual movement data for 7137 birds of 77 petrel species to estimate relative exposure risk. We identify high exposure risk areas in the Mediterranean and Black seas, and the northeast Pacific, northwest Pacific, South Atlantic and southwest Indian oceans. Plastic exposure risk varies greatly among species and populations, and between breeding and nonbreeding seasons. Exposure risk is disproportionately high for Threatened species. Outside the Mediterranean and Black seas, exposure risk is highest in the high seas and Exclusive Economic Zones (EEZs) of the USA, Japan, and the UK. Birds generally had higher plastic exposure risk outside the EEZ of the country where they breed. We identify conservation and research priorities, and highlight that international collaboration is key to addressing the impacts of marine plastic on wide-ranging speciespublishedVersio
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