Publications by authors named "O Kılıcarslan"
: X-linked dystrophinopathies are a group of neuromuscular diseases caused by pathogenic variants in the gene (MIM *300377). Duchenne muscular dystrophy (DMD; MIM #310200) is the most common inherited muscular dystrophy. : We screened datasets of 403 male, genetically confirmed X-linked dystrophinopathy patients and identified 13 pathogenic variants of the gene that have not been described in the literature thus far.
View Article and Find Full Text PDFPurpose: To retrospectively analyze long-term outcomes of pediatric pars planitis (PP).
Methods: PP was defined as vitreal inflammation with snowbank or snowball formation in the absence of a related disease. Eighty-five eyes of 44 patients were included in this study.
Article Synopsis
- A 25-year-old woman displayed aggressive symptoms of atypical T-cell lymphoproliferative infiltration, starting with preretinal infiltrates that mimicked uveitis.
- The patient's condition deteriorated, leading to severe complications, including bilateral proptosis and other neurological signs.
- The case highlights that T-cell lymphoproliferative disease can present in unusual ways and should be considered in patients showing unusual ocular symptoms.
Article Synopsis
- A study analyzed 58 individuals with unresolved childhood-onset neuromuscular diseases (NMDs) who previously had inconclusive exome sequencing results, aiming to improve molecular diagnosis.* -
- By using a combination of trio genome sequencing and RNA sequencing, the researchers achieved genetic diagnoses in 40% of the patients, identifying causal variants in most cases.* -
- The findings highlight that integrating detailed patient phenotyping and advanced genomic techniques can enhance diagnostic rates and better manage individuals suffering from NMDs.*