Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress.

Health-related quality of life (HRQOL) is reduced in Fabry disease (FD) and associated with clinical disease manifestations, but few have used Fabry-specific severity scores to study how disease burden interferes with quality of life. We investigated how the Fabry DS3, consisting of four somatic domains and one patient-reported item, associates with HRQOL, while also evaluating fatigue, pain and psychological distress as possible predictors. Thirty-six adults with FD completed the Short-form Health Survey (SF-36), the hospital anxiety and depression scale (HADS), the brief pain inventory (BPI) and reported fatigue on a visual analog scale.

The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease.

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by multiorgan dysfunction. Since individuals with FD usually experience progressive clinical disease manifestations, their health-related quality of life (HRQOL) is expected to change over time. However, there is limited longitudinal research examining HRQOL outcomes in individuals with FD.

Evaluation of four commonly used normalizer genes for the study of decidual gene expression.

Reverse transcription quantitative PCR (RT-qPCR) gene expression results must be normalized using stably expressed genes to correct for technical variation. We evaluated the expression of four widely used normalizers (RNA18S, GAPDH, TBP, and YWHAZ) across 59 decidual tissue samples collected by vacuum suction from preeclamptic and normotensive pregnancies. RNA18S and GAPDH were not suitable as normalizers, while YWHAZ and TBP were stably expressed across the study groups.

CD74-Downregulation of Placental Macrophage-Trophoblastic Interactions in Preeclampsia.

Rationale: We hypothesized that cluster of differentiation 74 (CD74) downregulation on placental macrophages, leading to altered macrophage-trophoblast interaction, is involved in preeclampsia.

Objective: Preeclamptic pregnancies feature hypertension, proteinuria, and placental anomalies. Feto-placental macrophages regulate villous trophoblast differentiation during placental development.