Publications by authors named "D F Soydemir"
Article Synopsis
- Leber hereditary optic neuropathy (LHON) is a genetic condition that primarily causes vision loss from the degeneration of retinal ganglion cells, while LHON-Plus includes additional neurological symptoms like seizures and movement disorders.
- A 15-year-old boy with atypical LHON-Plus presented with severe headaches and vision problems, leading to a misdiagnosis of idiopathic intracranial hypertension before revealing symptoms of neuromyelitis optica spectrum disorder (NMOSD).
- Genetic testing identified a novel variant in the DNAJC30 gene, highlighting the importance of exome sequencing in diagnosing complex neurological disorders that may share symptoms with other conditions like NMOSD.
Background: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses.
Methods: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis.
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (IDDFSDA) is an autosomal recessive multisystem disorder caused by compound heterozygous or homozygous variants in the gene OTUD6B. Herein, we describe novel pathogenic compound heterozygous variants in OTUD6B identified via whole-exome sequencing in an index case exhibited the severe IDDFSDA phenotype. The potential pathogenicity of the novel frameshift and missense variants in the index case was investigated using in silico tools.
View Article and Find Full Text PDFBackground: Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far.
Case: Here, we report two siblings with dysmorphic features, growth retardation, microcephaly, intractable epilepsy, and hemangioma in the frontal, occipital and lumbosacral regions.
Objective: Management protocols for pediatric diabetic ketoacidosis (DKA) vary considerably among medical centers. The aim of this study was to investigate the efficacy and safety of 3 different fluid protocols in the management of DKA.
Methods: Fluid management protocols with sodium contents of 75, 100, and 154 mEq/L NaCl were compared.