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    Association between mannose binding lectin polymorphisms and predisposition to bacterial meningitis
    (Turkish J Pediatrics, 2007) Vardar, Fadil; Pehlivan, Sacide; Onay, Hueseyin; Athhan, Fuesun; Gueliz, Nesrin; Oezkinay, Cihangir; Oezkinay, Ferda
    The aim of this study was to examine the presence of any association between mannose binding lectin (MBL) gene variants and bacterial meningitis. Codon 54 (B allele) and codon 57 (C allele) polymorphisms in exon 1 of the MBL gene were investigated in 50 healthy controls and 31 patients diagnosed as purulent meningitis. Codon 57 polymorphism was not found in our patient and control groups. B allele frequency was significantly higher in the patient group (22%) compared to the control group (3%). AB genotype was determined in 39% and 6% of patient and healthy control groups, respectively, and the difference was statistically significant. AA genotype was determined in 61% of the patient group and in 94% of the control group, and it was statistically low in the patient group. These results suggest that codon 54 polymorphism in the MBL gene may play a role in susceptibility to bacterial meningitis in children.
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    Evaluation of Coronavirus Disease 2019-Related Morbidity and Mortality in Lipodystrophy Patients During the Pandemic Period
    (Aves, 2024) Semiz, Gokcen Gungor; Demir, Tevfik; Simsir, Ilgin Yildirim; Selimoglu, Ismail; Yilmaz, Muege; Ellidokuz, Huelya; Onay, Hueseyin
    Objective: Coronavirus Disease 2019's (COVID-19) impact on rare disease populations such as lipodystrophy syndromes is unknown. We assessed COVID-19 infection outcomes in lipodystrophy syndromes and aimed to investigate the effect of restricted access to the hospital during the pandemic on metabolic parameters. Methods: A survey form consisting of descriptive questions about the situation of the patients during the COVID-19 pandemic was created. The survey was performed by phone in February and March 2021; all patients gave verbal consent. Patients diagnosed with lipodystrophy syndromes participated in our study. Demographic parameters were recorded. They were asked if they were diagnosed with COVID-19; if so, the hospitalization, intensive care unit need, oxygen requirement, and COVID-19 treatment were questioned. Laboratory data were recorded from the hospital records. Results: Seventy-one patients were investigated. Lipodystrophy patients in our study had at least 1 comorbid disease. Diabetes mellitus was the most common (87.1%). Six patients stated they had a COVID-19 infection (6/71, 8.5%). Three cases (50.0%) were hospitalized, and 1 (16.6%) patient was followed up in the intensive care unit. There were no deaths in our cohort. When the laboratory parameters of the entire group were evaluated, spot urine microalbumin increased significantly compared to the prepandemic period (P P = .013). Conclusion: Lipodystrophy patients may experience COVID-19 more severely due to their numerous comorbidities. Further research should be conducted with larger patient cohorts to investigate this relationship.