5 research outputs found
POGZ Is Required for Silencing Mouse Embryonic β-like Hemoglobin and Human Fetal Hemoglobin Expression
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesFetal globin genes are transcriptionally silenced during embryogenesis through hemoglobin switching. Strategies to derepress fetal globin expression in the adult could alleviate symptoms in sickle cell disease and β-thalassemia. We identified a zinc-finger protein, pogo transposable element with zinc-finger domain (POGZ), expressed in hematopoietic progenitor cells. Targeted deletion of Pogz in adult hematopoietic cells in vivo results in persistence of embryonic β-like globin expression without affecting erythroid development. POGZ binds to the Bcl11a promoter and erythroid-specific intragenic regulatory regions. Pogz+/- mice show elevated embryonic β-like globin expression, suggesting that partial reduction of Pogz expression results in persistence of embryonic β-like globin expression. Knockdown of POGZ in primary human CD34+ progenitor cell-derived erythroblasts reduces BCL11A expression, a known repressor of embryonic β-like globin expression, and increases fetal hemoglobin expression. These findings are significant, since new therapeutic targets and strategies are needed to treat β-globin disorders.Frederick National Laboratory for Cancer Research, NIH
intramural research program of the NHLBI, NIH
intramural research program of the NIDDK, NIH
USUH
Musculoskeletal pain and its effect on daily activity and behaviour in Icelandic children and youths with juvenile idiopathic arthritis: a cross-sectional case-control study
Abstract Background Juvenile idiopathic arthritis is characterised by recurring episodes of acute inflammation, with joint swelling in one or more joints, often accompanied by pain. These episodes can now be controlled better than in the past because of a new category of medications. However, despite more stable disease activity, pain may continue to cause problems in the children with juvenile idiopathic arthritis and can reduce their performance of routine physical activities and participation in social or school activities. Aim To evaluate the prevalence of pain, pain intensity, pain behaviour, and pain interference in Icelandic children with juvenile idiopathic arthritis compared with healthy peers. Methods A cross-sectional, case-control study including 8-18 years old children; 28 with juvenile idiopathic arthritis and 36 in a control group. The children answered questions on pain experienced during the last 7 days, painful areas of the body and pain frequency. They completed short form versions of the Patient-Reported Outcome Measurement Information System (PROMIS) questionnaires on pain intensity, pain behaviour, and pain interference. Results Significantly more children with juvenile idiopathic arthritis had pain compared with the control group (p = 0.02). Children with JIA also had a greater number of painful body areas (p = 0.03), more pain intensity (p = 0.009), and showed more pain behaviour (p = 0.006), and pain interference (p = 0.002). Children with juvenile idiopathic arthritis who had pain, experienced more pain interference (p = 0.023) than their peers who had pain. However, the groups did not differ in terms of pain intensity (p = 0.102) and pain behaviour (p = 0.058). Conclusion The research results indicate that pain experience was different between children with juvenile idiopathic arthritis and the control group. The results suggest that further research of the role of pain management on functional outcomes in children with juvenile idiopathic arthritis is needed
Cohort study on the experiences of cancer diagnosis and treatment in Iceland in the year 2015-2019
Spáð er mikilli fjölgun krabbameinstilfella á ĂŤslandi næstu áratugi. Mikilvægt er aĂ° fá aukna innsĂ˝n Ă reynslu Ăľeirra sem greinast meĂ° krabbamein meĂ° ĂľaĂ° aĂ° markmiĂ°i aĂ° bæta lĂfsgæði Ăľeirra og horfur.INTRODUCTION: In the coming years, an increase in the number of cancer cases can be expected in Iceland. It is important to gain more insight into the experiences of the diagnostic- and treatment phase among those diagnosed with cancer to improve quality of life and life expectancy. METHODS: The study included 4575 individuals diagnosed with cancer between 2015 and 2019 in Iceland, 18 years or older at the time. Participants answered an on-line questionnaire once between 2020 and 2021. RESULTS: A total of 1672 (37%) individuals responded to the questionnaire. The mean age at diagnosis was 59 years (±12). The majority of participants were informed on their cancer diagnosis during a doctor's appointment (67%), but a quarter (25%) received the information by telephone. A total of 77% of participants were satisfied with the diagnostic process, thereof relatively fewer women than men (73% vs. 83%) (p<0,001). Fewer of those who received the cancer diagnosis by telephone were pleased with the diagnostic process (62%) compared with those receiving information during a doctor's appointment (85%) (p<0,001). More women (58%) than men (33%) expressed the need for support regarding mental well-being from healthcare professionals during the diagnostic process (p<0.001). In 2015, 36% of participants started treatment more than month after diagnosis, compared with 51% in 2019. The need for various specific resources during treatment, e.g. physiotherapy, psychological services or nutritional counseling were regularly assessed among 20-30% of participants. CONCLUSION: A quarter of respondents diagnosed with cancer received information about the diagnosis over the phone instead of an interview. There is a suggestion that the time from diagnosis to the start of cancer treatment is increasing. It is necessary to assess whether it is possible to support individuals with cancer better during the diagnostic- and treatment phase based on their individual needs.Peer reviewe