Publications by authors named "Thomas Leis"
Article Synopsis
- The study focuses on three siblings with severe early-onset neurological issues linked to compound heterozygous variants in a specific gene, highlighting symptoms like muscular hypotonia, seizures, and apnoea.
- Two of the siblings died young, with suspected causes related to their conditions, while the third sibling developed epilepsy and mild intellectual impairment.
- Genetic testing revealed both maternal and paternal pathogenic variants associated with the severe phenotype of developmental epileptic encephalopathy (DEE), emphasizing the need for further research to understand unusual clinical cases related to these genetic disorders.
HIBCH (3-hydroxyisobutyryl-CoA hydrolase) deficiency (MIM #250620) is a rare autosomal recessive inborn error of metabolism, leading to a block in the catabolic pathway of the amino acid valine and presumably to accumulation of toxic valine metabolites in mitochondria. Only three families with HIBCH deficiency and biallelic HIBCH mutations have been described. We report on a further patient, first child of healthy consanguineous parents, with severe developmental delay, seizures, hyperintensities of the basal ganglia on magnetic resonance imaging (MRI), progressive brain atrophy, optic nerve atrophy, repeatedly elevated blood lactate, and respiratory chain complexes I, I + III and cytochrome c oxidase deficiencies with borderline depletion of mitochondrial DNA in muscle tissue.
View Article and Find Full Text PDFPurpose: This study aims to describe the drug use on a Neonatal Intensive Care Unit (NICU) at a University Children's Hospital in Germany, to investigate the licensing status of the drugs used and to conclude critical areas in neonatal intensive care to support prioritisation of future research.
Methods: An 11-month, prospective cohort study was conducted on the NICU at the University Children's Hospital Erlangen, Germany. All products prescribed during the study period were analysed whether or not the SPC contains information on term and preterm neonates.
The translocation t(9;11)(p22;q23) is a recurring chromosomal abnormality in acute myeloid leukemia (AML) fusing two genes designated as MLL and AF9. Within MLL, almost all rearrangements cluster in an 8.3-kb restricted region and fuse 5' portions of MLL to a variety of heterologous genes in various 11q23 translocations.
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