The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.

High hyperdiploid (51-67 chromosomes) acute lymphoblastic leukemia (ALL) is one of the most common childhood malignancies, comprising 30% of all pediatric B cell-precursor ALL. Its characteristic genetic feature is the nonrandom gain of chromosomes X, 4, 6, 10, 14, 17, 18 and 21, with individual trisomies or tetrasomies being seen in over 75% of cases, but the pathogenesis remains poorly understood. We performed whole-genome sequencing (WGS) (n = 16) and/or whole-exome sequencing (WES) (n = 39) of diagnostic and remission samples from 51 cases of high hyperdiploid ALL to further define the genomic landscape of this malignancy. The majority of cases showed involvement of the RTK-RAS pathway and of histone modifiers. No recurrent fusion gene-forming rearrangement was found, and an analysis of mutations on trisomic chromosomes indicated that the chromosomal gains were early events, strengthening the notion that the high hyperdiploid pattern is the main driver event in this common pediatric malignancy

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans. We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we identified at genome-wide significance (P = 2.7 × 10(-8) to P = 2.3 × 10(-13)) four new PP loci (at 4q12 near CHIC2, 7q22.3 near PIK3CG, 8q24.12 in NOV and 11q24.3 near ADAMTS8), two new MAP loci (3p21.31 in MAP4 and 10q25.3 near ADRB1) and one locus associated with both of these traits (2q24.3 near FIGN) that has also recently been associated with SBP in east Asians. For three of the new PP loci, the estimated effect for SBP was opposite of that for DBP, in contrast to the majority of common SBP- and DBP-associated variants, which show concordant effects on both traits. These findings suggest new genetic pathways underlying blood pressure variation, some of which may differentially influence SBP and DBP

Se på din storlek! Kanske hon försvarade sig? : En studie kring attityder gentemot kvinnors våld mot män i nära relationer

Syftet med studien är åskådliggöra hur myndigheter, publika medier och medmänniskor skriver om och talar kring män som utsätts för våld i nära relationer, att beskriva den verklighet som dessa män befinner sig i och vad som behövs för att åstadkomma en attitydförändring.Metoden baserades på en narrativ analys utifrån vetenskapliga och populärvetenskapliga artiklar samt texter från publika medier från SocIndex och Google. De teoretiska utgångspunkterna har varit bland annat normer gällande kön, jämställdhet, konsekvenser av utsatthet för våld samt viktimologi. Utifrån det angivna syftet anser vi att narrativ analys är en passande metod eftersom intresset ligger i att studera hur språket, ordval och hur individer framställs och framställer sig själv som sociala och kulturella varelse.Resultatet presenterar attityder kring kvinnors våld mot män i nära relationer. Kapitlet inleds med en genomgång av de dominerande attityderna, vilka är att män inte kan vara offer och att kvinnor inte kan vara förövare. Vidare redovisas hur dessa attityder kan få för negativa konsekvenser för våldsutsatta män och avslutningsvis presenteras att dessa män bör inkluderas i jämställdhetsarbetet för att nyansera inställningen kring våld i nära relationer.Diskussionen inleds med en sammanfattande slutsats utifrån resultatet. Vidare presenteras reflektioner som berör bland annat hur synen på våld i nära relationer behöver förändras, främst genom jämställdhetsarbete samt att begreppet ”partnervåld” anammas. Detta för att öka förståelsen kring att såväl en man som en kvinna kan använda våld i nära relationer

Se på din storlek! Kanske hon försvarade sig? : En studie kring attityder gentemot kvinnors våld mot män i nära relationer

Syftet med studien är åskådliggöra hur myndigheter, publika medier och medmänniskor skriver om och talar kring män som utsätts för våld i nära relationer, att beskriva den verklighet som dessa män befinner sig i och vad som behövs för att åstadkomma en attitydförändring.Metoden baserades på en narrativ analys utifrån vetenskapliga och populärvetenskapliga artiklar samt texter från publika medier från SocIndex och Google. De teoretiska utgångspunkterna har varit bland annat normer gällande kön, jämställdhet, konsekvenser av utsatthet för våld samt viktimologi. Utifrån det angivna syftet anser vi att narrativ analys är en passande metod eftersom intresset ligger i att studera hur språket, ordval och hur individer framställs och framställer sig själv som sociala och kulturella varelse.Resultatet presenterar attityder kring kvinnors våld mot män i nära relationer. Kapitlet inleds med en genomgång av de dominerande attityderna, vilka är att män inte kan vara offer och att kvinnor inte kan vara förövare. Vidare redovisas hur dessa attityder kan få för negativa konsekvenser för våldsutsatta män och avslutningsvis presenteras att dessa män bör inkluderas i jämställdhetsarbetet för att nyansera inställningen kring våld i nära relationer.Diskussionen inleds med en sammanfattande slutsats utifrån resultatet. Vidare presenteras reflektioner som berör bland annat hur synen på våld i nära relationer behöver förändras, främst genom jämställdhetsarbete samt att begreppet ”partnervåld” anammas. Detta för att öka förståelsen kring att såväl en man som en kvinna kan använda våld i nära relationer

Registered nurse’s working at elderly care centers experience of depressive symptoms among older people : a qualitative descriptive study

Background: Depressive symptoms and/or depression are commonly experienced by older people. Both are underdiagnosed, undertreated and regularly overlooked by healthcare professionals. Healthcare facilities for people aged ≥ 75 years have been in place in Sweden since 2015. The aim of these care centres, which are managed by registered nurses (RNs), is to offer care adjusted to cater to the complex needs and health problems of older people. Although the mental health of older people is prioritised in these centres, research into the experience of RNs of depressive symptoms and/or depression in older people in this setting is limited. Therefore, this study aimed to illuminate RNs, working at care centres for older people, experience of identifying and intervening in cases of depressive symptoms.Methods: The data for this qualitative descriptive study were collected through interviews (n = 10) with RNs working at 10 care centres for older people in southern Sweden. The transcribed texts were analysed using inductive content analysis. Results: The participants’ experiences could be understood from four predominant themes: (1) challenging to identify, (2) described interventions, (3) prerequisites for identification, and (4) contextual influences. Key findings were that it was difficult to identify depression as it often manifested as physical symptoms; evidence-based nursing interventions were generally not the first-line treatment used; trust, continuity and the ability of RNs to think laterally; and the context influenced the ability of RNs to manage older people’s depressive symptoms and/or depression. Conclusions: The process of identifying depressive symptoms and performing an appropriate intervention was found to be complex, especially as older people were reluctant to present at the centres and provided obscure reasons for doing so. A nurse-patient relationship that was built on trust and was characterised by continuity of care was identified as a necessary prerequisite. Appropriate nursing interventions—afforded the same status as pharmacological treatment—are warranted as the first-line treatment of depression. Further research is also needed into efficacious nursing interventions targeting depressive symptoms and/or depression

Registered nurse’s working at elderly care centers experience of depressive symptoms among older people : a qualitative descriptive study

Background: Depressive symptoms and/or depression are commonly experienced by older people. Both are underdiagnosed, undertreated and regularly overlooked by healthcare professionals. Healthcare facilities for people aged ≥ 75 years have been in place in Sweden since 2015. The aim of these care centres, which are managed by registered nurses (RNs), is to offer care adjusted to cater to the complex needs and health problems of older people. Although the mental health of older people is prioritised in these centres, research into the experience of RNs of depressive symptoms and/or depression in older people in this setting is limited. Therefore, this study aimed to illuminate RNs, working at care centres for older people, experience of identifying and intervening in cases of depressive symptoms. Methods: The data for this qualitative descriptive study were collected through interviews (n = 10) with RNs working at 10 care centres for older people in southern Sweden. The transcribed texts were analysed using inductive content analysis. Results: The participants’ experiences could be understood from four predominant themes: (1) challenging to identify, (2) described interventions, (3) prerequisites for identification, and (4) contextual influences. Key findings were that it was difficult to identify depression as it often manifested as physical symptoms; evidence-based nursing interventions were generally not the first-line treatment used; trust, continuity and the ability of RNs to think laterally; and the context influenced the ability of RNs to manage older people’s depressive symptoms and/or depression. Conclusions: The process of identifying depressive symptoms and performing an appropriate intervention was found to be complex, especially as older people were reluctant to present at the centres and provided obscure reasons for doing so. A nurse-patient relationship that was built on trust and was characterised by continuity of care was identified as a necessary prerequisite. Appropriate nursing interventions—afforded the same status as pharmacological treatment—are warranted as the first-line treatment of depression. Further research is also needed into efficacious nursing interventions targeting depressive symptoms and/or depression