45 research outputs found

    The risk of various types of cardiovascular diseases in mutation positive familial hypercholesterolemia; a review

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    Familial hypercholesterolemia (FH) is a common, inherited disease characterized by high levels of low-density lipoprotein Cholesterol (LDL-C) from birth. Any diseases associated with increased LDL-C levels including atherosclerotic cardiovascular diseases (ASCVDs) would be expected to be overrepresented among FH patients. There are several clinical scoring systems aiming to diagnose FH, however; most individuals who meet the clinical criteria for a FH diagnosis do not have a mutation causing FH. In this review, we aim to summarize the literature on the risk for the various forms of ASCVD in subjects with a proven FH-mutation (FH+). We searched for studies on FH+ and cardiovascular diseases and also included our and other groups published papers on FH + on a wide range of cardiovascular and other diseases of the heart and vessels. FH + patients are at a markedly increased risk of a broad range of ASCVD. Acute myocardial infarction (AMI) is the most common in absolute numbers, but also aortic valve stenosis is by far associated with the highest excess risk. Per thousand patients, we observed 3.6 incident AMI per year compared to 1.9 incident aortic valve stenosis, however, standardized incidence ratio (SIR) for incident AMI was 2.3 compared to 7.9 for incident aortic valve stenosis. Further, occurrence of ischemic stroke seems not to be associated with increased risk in FH+. Clinicians should be aware of the excess risk of almost all kind of ASCVD in FH+, and the neutral risk of stroke need to be studied further in FH + patients.publishedVersio

    Cross-cultural Validation of the Norwegian Version of the Banff Patellofemoral Instability Instrument 2.0

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    Background: The Banff Patellofemoral Instability Instrument (BPII) 2.0 is a disease-specific quality of life questionnaire for patients with patellofemoral instability. While good psychometric properties have been demonstrated, the data lack cross-cultural validity, construct validity, and an established measurement error. Purpose: To (1) translate and cross-culturally adapt the BPII 2.0 to the Norwegian version (BPII 2.0–No) and (2) examine the psychometric properties of the Norwegian version. Study Design: Cohort study (diagnosis); Level of evidence, 3. Methods: The BPII 2.0 was translated according to international guidelines. A cohort of 100 patients surgically treated for recurrent patellofemoral instability completed the BPII 2.0–No, related outcome measures (Norwich Patellar Instability Score, International Knee Documentation Committee Subjective Knee Form 2000, Knee injury and Osteoarthritis Outcome Score, and Tampa Scale of Kinesiophobia), and functional tests (Y-Balance Test–Lower Quarter, single-leg hop tests, and knee extension strength) before and/or 6 months after surgery. We evaluated the face and content validity, internal consistency (Cronbach α), test-retest reliability (intraclass correlation coefficient [ICC]), measurement error (SEM and smallest detectable change at the individual [SDCind] and group levels [SDCgroup]). Construct validity was assessed by testing 9 hypotheses on the correlation between the BPII 2.0–No and the outcome measures/functional tests (Pearson r). Results: The BPII 2.0–No had good face and content validity. Internal consistency was excellent (α = .95), and no floor or ceiling effects were found. Test-retest reliability was high (ICC2,1 = 0.87; 95% CI, 0.77-0.93), and measurement error was low (SEM = 7.1). The SDCind was 19.7 points and the SDCgroup was 2.8 points. Eight of the 9 hypotheses regarding construct validity were confirmed. Conclusion: The BPII 2.0–No was found to be valid and reliable. This study adds further knowledge on the measurement properties of the BPII 2.0 that can be used internationally.publishedVersio

    Decidual and placental NOD1 is associated with inflammation in normal and preeclamptic pregnancies

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    Introduction: Inflammation is a normal physiological process that increases to harmful levels in preeclampsia. It affects the interaction between maternal immune cells and fetal trophoblasts at both sites of the maternal-fetal interface; decidua and placenta. The pattern recognition receptor nucleotide-binding oligomerization domain-containing protein (NOD)1 is expressed at both sites. This study aimed to characterize the cellular expression and functionality of NOD1 at the maternal-fetal interface of normal and preeclamptic pregnancies. Methods: Women with normal or preeclamptic pregnancies delivered by caesarean section were included. Decidual (n = 90) and placental (n = 91) samples were analyzed for NOD1 expression by immunohistochemistry and an automated image-based quantification method. Decidual and placental explants were incubated with or without the NOD1-agonist iE-DAP and cytokine responses measured by ELISA. Results: NOD1 was markedly expressed by maternal cells in the decidua and by fetal trophoblasts in both decidua and placenta, with trophoblasts showing the highest NOD1 expression. Preeclampsia with normal fetal growth was associated with a trophoblast-dependent increase in decidual NOD1 expression density. Compared to normal pregnancies, preeclampsia demonstrated stronger correlation between decidual and placental NOD1 expression levels. Increased production of interleukin (IL)-6 or IL-8 after in vitro explant stimulation confirmed NOD1 functionality. Discussion: These findings suggest that NOD1 contributes to inflammation at the maternal-fetal interface in normal pregnancies and preeclampsia and indicate a role in direct maternal-fetal communication. The strong expression of NOD1 by all trophoblast types highlights the importance of combined assessment of decidua and placenta for overall understanding of pathophysiological processes at the maternal-fetal interface.publishedVersio

    Divergent Regulation of Decidual Oxidative-Stress Response by NRF2 and KEAP1 in Preeclampsia with and without Fetal Growth Restriction

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    Utero-placental development in pregnancy depends on direct maternal–fetal interaction in the uterine wall decidua. Abnormal uterine vascular remodeling preceding placental oxidative stress and placental dysfunction are associated with preeclampsia and fetal growth restriction (FGR). Oxidative stress is counteracted by antioxidants and oxidative repair mechanisms regulated by the transcription factor nuclear factor erythroid 2-related factor 2 (NRF2). We aimed to determine the decidual regulation of the oxidative-stress response by NRF2 and its negative regulator Kelch-like ECH-associated protein 1 (KEAP1) in normal pregnancies and preeclamptic pregnancies with and without FGR. Decidual tissue from 145 pregnancies at delivery was assessed for oxidative stress, non-enzymatic antioxidant capacity, cellular NRF2- and KEAP1-protein expression, and NRF2-regulated transcriptional activation. Preeclampsia combined with FGR was associated with an increased oxidative-stress level and NRF2-regulated gene expression in the decidua, while decidual NRF2- and KEAP1-protein expression was unaffected. Although preeclampsia with normal fetal growth also showed increased decidual oxidative stress, NRF2-regulated gene expression was reduced, and KEAP1-protein expression was increased in areas of high trophoblast density. The trophoblast-dependent KEAP1-protein expression in preeclampsia with normal fetal growth indicates control of decidual oxidative stress by maternal–fetal interaction and underscores the importance of discriminating between preeclampsia with and without FGR.publishedVersio

    Physical activity in women after an acute myocardial infarction.

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    Background: Physical activity is recognized as being important in reducing mortality after an acute myocardial infarction. The study aimed to describe younger and older women’s leisure time physical activity after an acute myocardial infarction, their motivations and barriers for engaging in physical activity and to assess aspects associated with referral and attendance in cardiac rehabilitation programmes. Methods: Women diagnosed with an acute myocardial infarction were consecutively recruited and answered a questionnaire 2-3 months after hospital discharge. Results: The majority of the respondents (86%) were physically active after their acute myocardial infarction and 34% were physically active 4 days a week for 30 minutes. Respondents 66 years were less likely than respondents < 66 years to report moderate physical activity (39% vs. 58%, p = .03) and more likely to report low physical activity (27% vs. 8%, p < .01). No differences were found between these age groups reporting high physical activity (34% vs. 34%). Respondents 66 years were also less likely than younger respondents to maintain or increase their physical activity after the acute event (59% vs. 76%, p < .01), to be informed about the significance of physical activity while in hospital (61% vs. 80%, p = .01), to be referred to a cardiac rehabilitation programme (49% vs. 75%, p .01) and to attend such a programme (30% vs. 65%, p < .01). Conclusions: Women’s age was associated with physical activity as well as their possibilities regarding cardiac rehabilitation after an acute myocardial infarction
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