Publications by authors named "I Wieland"
Background: Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The genetic knowledge in this field is rapidly growing, and genetic testing is now part of the diagnostic workup alongside the clinical, radiological and histopathological data. Nonetheless, access to genetic testing is still limited, and there is significant heterogeneity across the approaches used by the diagnostic laboratories, with direct consequences on test sensitivity and accuracy.
View Article and Find Full Text PDFArticle Synopsis
- Juvenile myelomonocytic leukaemia (JMML) is a type of cancer that occurs in children and is linked to problems with certain genes in the RAS pathway.
- Kids with a condition called neurofibromatosis type 1 (NF-1) are more likely to get JMML because of a faulty NF1 gene they inherit.
- The study looked at 25 JMML patients, finding different types of NF1 gene problems and suggesting that testing for NF1 gene issues is important even if patients don’t show signs of NF-1.
Achromatopsia-Visual Cortex Stability and Plasticity in the Absence of Functional Cones.
Invest Ophthalmol Vis Sci
October 2023
Article Synopsis
- Achromatopsia is a rare genetic condition that affects the function of retinal cone photoreceptors, leading to a lack of visual input in the central visual field, raising questions about how the brain adapts to this loss.
- A study involving 17 individuals with achromatopsia used fMRI techniques to investigate whether the brain's visual cortex adjusts to process visual information from surrounding areas instead of the central area.
- The results indicated that significant remapping of the central visual field representation in the brain did not occur in achromatopsia patients, suggesting less brain plasticity than previously thought and highlighting the need for pre-treatment imaging to improve therapeutic outcomes.
Background: Bilateral lung transplantation (LuTx) remains the only established treatment for children with end-stage pulmonary arterial hypertension (PAH). Although PAH is the second most common indication for LuTx, little is known about optimal perioperative management and midterm clinical outcomes.
Methods: Prospective observational study on consecutive children with PAH who underwent LuTx with scheduled postoperative VA-ECMO support at Hannover Medical School from December 2013 to June 2020.