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2.
Wien Klin Wochenschr ; 136(Suppl 4): 75-102, 2024 Jul.
Article in German | MEDLINE | ID: mdl-38743098

ABSTRACT

This guideline is intended to provide practical guidance for the diagnosis and treatment of haemophilia in Austria. Few randomized controlled interventional trials are available addressing the treatment of haemophilia, therefore recommendations are usually based on low level of evidence and represent expert consensus.This guideline is based on the WFH guideline, published in 2020, and adapted according to the national circumstances and experience.It includes recommendations and suggestions for diagnosis and follow-up visits and pharmacological therapies for treatment and prophylaxis. Further topics comprise special aspects in children and adults with severe haemophilia, outcome measurement, and management of trauma, special bleedings and interventions, including dental procedures, inhibitors, management of haemophilia carriers, and psychosocial aspects.


Subject(s)
Hemophilia A , Hemophilia A/therapy , Hemophilia A/diagnosis , Humans , Austria , Child , Adult , Practice Guidelines as Topic
3.
Am J Hum Genet ; 108(6): 1069-1082, 2021 06 03.
Article in English | MEDLINE | ID: mdl-34022130

ABSTRACT

BCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved cytoskeletal protein previously proposed to be critical in angiogenesis and implicated in human embryogenesis and tumorigenesis. Here, we established BCAS3 loss-of-function variants as causative for a neurodevelopmental disorder. We report 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. The human phenotype is less severe compared with the Bcas3 knockout mouse model and cannot be explained by angiogenic defects alone. Consistent with being loss-of-function alleles, we observed absence of BCAS3 in probands' primary fibroblasts. By comparing the transcriptomic and proteomic data based on probands' fibroblasts with those of the knockout mouse model, we identified similar dysregulated pathways resulting from over-representation analysis, while the dysregulation of some proposed key interactors could not be confirmed. Together with the results from a tissue-specific Drosophila loss-of-function model, we demonstrate a vital role for BCAS3 in neural tissue development.


Subject(s)
Loss of Function Mutation , Loss of Heterozygosity , Neoplasm Proteins/genetics , Neurodevelopmental Disorders/etiology , Adolescent , Adult , Animals , Cell Movement , Child , Child, Preschool , Drosophila , Female , Fibroblasts/metabolism , Fibroblasts/pathology , Humans , Infant , Male , Mice , Mice, Knockout , Neoplasm Proteins/metabolism , Neurodevelopmental Disorders/metabolism , Neurodevelopmental Disorders/pathology , Pedigree , Proteome/analysis , Young Adult
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