Publications by authors named "Dilbar Mammadova"
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.
Article Synopsis
- The study investigates neurodevelopmental disorders caused by pathogenic variants, focusing on individuals without epilepsy, as little is known about their development and potential treatment endpoints beyond seizure control.
- Researchers conducted a retrospective study collecting data from 71 individuals, including 44 new cases, assessing their medical histories and developmental outcomes using standardized measures.
- Findings revealed that 25% of the participants did not have epilepsy, and those without it generally had better motor function and developmental outcomes, suggesting distinct clinical features between individuals with and without a history of seizures.
Background Long COVID occurs at a lower frequency in children and adolescents than in adults. Morphologic and free-breathing phase-resolved functional low-field-strength MRI may help identify persistent pulmonary manifestations after SARS-CoV-2 infection. Purpose To characterize both morphologic and functional changes of lung parenchyma at low-field-strength MRI in children and adolescents with post-COVID-19 condition compared with healthy controls.
View Article and Find Full Text PDFBackground: Increased patient mobility and restricted treatment of children with end-stage renal disease forced families from the former Eastern Bloc countries to flee with their children to Germany for adequate medical treatment.
Methods: In a case study, the patients' charts were analysed retrospectively. In structured interviews, parents and patients were asked about their flight routes to Germany, their medical treatment and their integration.