Publications by authors named "H Valta"
Objective: This retrospective cohort study aims to describe the genetic spectrum of fetal skeletal dysplasias detected in a Finnish patient cohort and the diagnostic yield of various analysis methods used.
Method: A total of 121 pregnancies with prenatally suspected or diagnosed skeletal dysplasia were analyzed between 2013 and 2020. Clinical details and findings from genetic testing were collected.
Article Synopsis
- Skeletal dysplasias are mostly well-defined conditions; however, some cases remain unresolved even after analyzing over 400 known genetic variants.
- An 11-year-old girl in Finland exhibited symptoms resembling odontochondrodysplasia (ODCD), which is connected to genetic mutations, and her family had previously lost a fetus with severe skeletal issues.
- Genetic analysis revealed a combination of mutations in multiple genes in the girl, indicating a new model of oligogenic inheritance for skeletal dysplasia, which could aid in genetic counseling and understanding unexplained cases.
Article Synopsis
- - The study assessed how well adults with Osteogenesis imperfecta (OI) adapted to positive airway pressure (PAP) therapy for obstructive sleep apnea (OSA) and tracked changes in sleepiness and depression levels before and after treatment.
- - Of the 20 patients with a mean age of 51, 15 started PAP therapy, with 83% adhering to it over an average follow-up of 1230 days, yet no significant improvements in sleepiness or depression symptoms were observed.
- - The findings suggest that while patients tolerated and adhered to PAP treatment well, their symptoms of sleepiness and depression remained unchanged, indicating a need for further research into the complexities affecting these conditions in individuals with OI.
Article Synopsis
- Researchers examined four unrelated families with SEMD and identified mutations in RPL13, revealing autosomal dominant inheritance but with incomplete penetrance and diverse manifestations of the disease.
- Functional studies in patient fibroblasts showed impaired ribosomal function and issues with protein synthesis, while a zebrafish model created through CRISPR-Cas9 demonstrated similar skeletal deformities, supporting the role of RPL13 in bone development.
SPONASTRIME dysplasia is a rare, recessive skeletal dysplasia characterized by short stature, facial dysmorphism, and aberrant radiographic findings of the spine and long bone metaphysis. No causative genetic alterations for SPONASTRIME dysplasia have yet been determined. Using whole-exome sequencing (WES), we identified bi-allelic TONSL mutations in 10 of 13 individuals with SPONASTRIME dysplasia.
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