Scopus İndeksli Yayınlar Koleksiyonu

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Subject: search.filters.subject.Diagnostic criteria

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    Comparison Of Diagnostic Criteria For Children With Familial Mediterranean Fever
    (2022) Onder, Esra Nagehan Akyol; Ozcan, Kudret Ebru; Sahin, Feride Iffet; Gulleroglu, Kaan Savas; Baskin, Esra; 35006379
    Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent attacks of fever and serositis. Diagnosis is made according to clinical findings and supported by genetic analysis. The most commonly used adult diagnostic criteria are the Tel-Hashomer criteria. Pediatric criteria for FMF diagnosis were described in 2009, but their reliability should be supported by additional reports. In this study, we aimed to compare the pediatric criteria and the Tel-Hashomer and 2019 Eurofever/PRINTO classification criteria using our FMF cohort. A total of 113 patients diagnosed with FMF were included. Demographic features and laboratory findings were retrospectively collected from the patients' files. The patients were evaluated with the Tel-Hashomer, pediatric and Eurofever/PRINTO classification criteria. At least two of five new pediatric criteria were as sensitive (89%) and specific (85%) as the Tel-Hashomer criteria (sensitivity 70%, specificity 96%). We also evaluated the Eurofever/PRINTO classification criteria using our cohort and found a sensitivity of 94% and specificity of 91%. Conclusion: Using pediatric criteria for the diagnosis of FMF in children is a feasible and simple approach that can diagnose the disease based on at least two criteria. Therefore, our study supports the use of pediatric criteria in FMF diagnosis of children. Our results also confirm that the Eurofever/PRINTO classification criteria can be successfully applied for the diagnosis of FMF due to their high sensitivity (94%) and specificity (91%). What is Known: center dot The FMF diagnosis is made according clinical findings and supported by genetic analysis. center dot The use of adult diagnostic criteria in pediatric FMF patients is controversial since classical clinical presentation is often absent in children. What is New: center dot Our study supports both the use of pediatric criteria and Eurofever/PRINTO classification criteria in clinical practice.
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    Tuberous sclerosis complex; a single center experience
    (2015) Erol, Ilknur; Savas, Tulin; Sekerci, Sevda; Yazici, Nalan; Erbay, Ayse; Demir, Senay; Saygi, Semra; Alkan, Ozlem; 26078697
    Aim: This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the diagnostic criteria revised by the 2012 International Tuberous Sclerosis Complex Consensus Group and comparing them with the literature. Material and Methods: 20 patients diagnosed with tuberous sclerosis complex in the Pediatric Neurology Clinic were examined retrospectively in terms of clinical findings and therapies. The diagnoses were compared again according to 1998 and 2012 criteria. Results: It was observed that the complaint at presentation was seizure in 17 of 20 patients and hypopigmented spots on the skin in 3 of 20 patients. On the initial physical examination, imaging findings related with the disease were found in the skin in 17 of the patients, in the eye in 5, in the kidneys in 7 and in the brain in 17. No cardiac involvement was observed in the patients. Infantile spasm was observed in 7 of the patients who presented because of seizure (n=17), partial seizure was observed in 7 and multiple seizure types were observed in 3. It was found that sirolimus treatment was given to 9 of 20 patients because of different reasons, 7 of these 9 patients had epileptic seizures and sirolimus treatment had no effect on epileptic seizures. According to 2012 diagnostic criteria, no marked change occured in the diagnoses of our patients. Conclusions: It was observed that the signs and symptoms of our patients were compatible with the literature. Molecular genetic examination was planned for the patients who were being followed up because of possible tuberous sclerosis complex. It was observed that sirolimus treatment had no marked effect on the seizure frequency of our patients.