Publications by authors named "Abdulkerim Kolkıran"
Mitochondrial respiratory chain dysfunction and impaired oxidative phosphorylation are rare but significant causes of mitochondrial diseases in children, presenting with diverse clinical features. Combined oxidative phosphorylation deficiency type 23 (COXPD23), an autosomal recessive disorder due to GTPBP3 gene mutations, typically manifests as lactic acidosis, hypertrophic cardiomyopathy, and encephalopathy. This case report describes a male infant born at 35 weeks gestation, who exhibited severe lactic aciduria and hypotonia but no cardiomyopathy, which is atypical for COXPD23.
View Article and Find Full Text PDFArticle Synopsis
- Linkeropathies are rare genetic disorders affecting skeletal and cardiac systems due to enzyme defects in proteoglycan synthesis.
- A case study involving two siblings with the B3GAT3 gene variant highlighted symptoms like short stature, kyphoscoliosis, and other physical abnormalities.
- The boy underwent successful surgery after being treated for severe kyphoscoliosis, which showcases the clinical implications of this rare syndrome.*
Article Synopsis
- - Gorlin syndrome is a rare genetic disorder that increases the risk of certain cancers and is primarily caused by genetic mutations that disrupt the sonic hedgehog signaling pathway.
- - The study highlights clinical features and genetic variations from nine patients in three families, finding various physical signs like macrocephaly and odontogenic keratocysts, which are key to diagnosis.
- - Early recognition of Gorlin syndrome is crucial, especially in patients with specific symptoms, and thorough examination of family members can help identify more individuals affected by the syndrome.
Background: Mucolipidosis type 3 gamma (ML-IIIγ) is an autosomal recessive, rare and slowly progressive lysosomal storage disease. Short stature, restricted joint mobility, thick skin, and flat face with mildly coarse features are major clinical findings. It usually manifests in the third year.
View Article and Find Full Text PDFCrisponi syndrome/Cold Induced Sweating Syndrome 1 (CS/CISS1) is a rare, autosomal recessive, multisystemic disease. Hyperthermia attacks, abnormal contractions in the muscles of the face and oropharynx, respiratory distress, camptodactyly, and swallowing difficulty are the main features of the condition in the neonatal period. Patients experience cold-induced sweating attacks and progressive kyphoscoliosis in childhood and adolescence.
View Article and Find Full Text PDFAim: To analyse the activity of the autonomic nervous system during breath-holding spells, we assessed the ECG changes, including ventricular repolarization parameters before and during the spell. We also analysed the effects of iron deficiency on these ECG parameters.
Methods: The study group consisted of 37 children with breath-holding spells (30 cyanotic, 7 pallid) (mean age+/-SD: 12.