Publications by authors named "Katharina Ericson"
The Nexilin F-Actin Binding Protein (Nexilin) encoded by NEXN is a cardiac Z-disc protein important for cardiac function and development in humans, zebrafish, and mice. Heterozygote variants in the human NEXN gene have been reported to cause dilated and hypertrophic cardiomyopathy. Homozygous variants in NEXN cause a lethal form of human fetal cardiomyopathy, only described in two patients before.
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- Reliable data on causes of death in preterm infants is crucial for evaluating perinatal care and guidelines.
- In a study analyzing preterm infants (< 37 weeks) who died in a Swedish neonatal unit, autopsy results revealed significant discrepancies between preliminary and confirmed causes of death.
- The research showed that necrotizing enterocolitis (NEC) as a cause of death rose notably in the later study period, and autopsy confirmed or revised the cause of death in about one-third of the cases, emphasizing the importance of autopsy for accurate COD determination.
Introduction: Our aim was to investigate the accuracy of postmortem fetal magnetic resonance imaging (MRI) compared with fetal autopsy in second trimester pregnancies terminated due to fetal anomalies. A secondary aim was to compare the MRI evaluations of two senior radiologists.
Material And Methods: This was a prospective study including 34 fetuses from pregnancies terminated in the second trimester due to fetal anomalies.
Background: Fetal akinesia deformation sequence syndrome (FADS, OMIM 208150) is characterised by decreased fetal movement (fetal akinesia) as well as intrauterine growth restriction, arthrogryposis, and developmental anomalies (eg, cystic hygroma, pulmonary hypoplasia, cleft palate, and cryptorchidism). Mutations in components of the acetylcholine receptor (AChR) pathway have previously been associated with FADS.
Methods And Results: We report on a family with recurrent fetal loss, where the parents had five affected fetuses/children with FADS and one healthy child.
Background: The reabsorption of filtered plasma proteins, hormones and vitamins by the renal proximal tubules is vital for body homeostasis. Studies of megalin-deficient mice suggest that the large multi-ligand endocytic receptor megalin plays an essential role in this process. In humans, dysfunctional megalin causes the extremely rare Donnai-Barrow/Facio-Oculo-Acustico-Renal (DB/FOAR) syndrome characterized by a characteristic and multifaceted phenotype including low-molecular-weight proteinuria.
View Article and Find Full Text PDFObjective: We hypothesized that the general inflammation observed in the wall of large, asymptomatic abdominal aortic aneurysms (AAAs) could be detected in vivo by 18-fluorodeoxglucose (FDG) positron-emission tomography (PET) and, if so, that this method could be used to study if active inflammation is an early pathogenetic finding in small AAAs detected by screening.
Methods: In this prospective clinical study, 12 men were examined with FDG-PET computed tomography. Seven had large asymptomatic AAAs (range, 52-66 mm) that required surgery, and five had small AAAs (range, 34-40 mm) under surveillance.
Comparison of ultrasound and autopsy findings in pregnancies terminated due to fetal anomalies.
Acta Obstet Gynecol Scand
November 2006
Objective: To compare antenatal diagnoses with autopsy findings in pregnancies terminated after ultrasound detection of fetal anomalies. A second aim was to study the quality of antenatal fetal diagnosis over time.
Design: Retrospective, multicenter study over two consecutive six-year periods in Uppsala and Stockholm.