Browsing by Author "Erdogan, O"

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    A child with intravascular fasciitis mimicking deep vein thrombosis: a case report
    Yigit, Y; Erdogan, O; Yildirim, AT; Özer, E; Gülen, H
    Background. Intravascular fasciitis (IF) is a benign, reactive, myofibroblastic proliferation that originates from the superficial or deep fascia of small / medium-sized arteries and veins. Case Report. An 8-year-old male patient was admitted to a health center with the complaint of swelling in the inguinal region. Lower extremity venous Doppler ultrasonography showed deep vein thrombosis (DVT) of the femoral vein and anticoagulation with low-molecular weight heparin (LMWH) was initiated. The patient was referred to our center for follow-up. The D-dimer level was detected within normal limits. Doppler ultrasonography was repeated and showed an intraluminal expanding mass lesion with increasing vascularity, without distinct borders and LMWH was discontinued. This lesion at the sapheno-femoral junction was excised surgically and the histopathological examination revealed intravascular fasciitis. Conclusion. Clinicians should be aware that the clinical findings of IF may mimic sarcoma and thrombosis.
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    Genetic screening in adolescents with steroid-resistant nephrotic syndrome
    Lipska-Zietkiewicz, BS; Iatropoulos, P; Maranta, R; Caridi, G; Ozaltin, F; Anarat, A; Balat, A; Gellermann, J; Trautmann, A; Erdogan, O; Saeed, B; Emre, S; Bogdanovic, R; Azocar, M; Balasz-Chmielewska, I; Benetti, E; Caliskan, S; Mir, S; Melk, A; Ertan, P; Baskin, E; Jardim, H; Davitaia, T; Wasilewska, A; Drozdz, D; Szczepanska, M; Jankauskiene, A; Higuita, LMS; Ardissino, G; Ozkaya, O; Kuzma-Mroczkowska, E; Soylemezoglu, O; Ranchin, B; Medynska, A; Tkaczyk, M; Peco-Antic, A; Akil, I; Jarmolinski, T; Firszt-Adamczyk, A; Dusek, J; Simonetti, GD; Gok, F; Gheissari, A; Emma, F; Krmar, RT; Fischbach, M; Printza, N; Simkova, E; Mele, C; Ghiggeri, GM; Schaefer, F
    Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent cohort of the international PodoNet registry to develop a rational screening approach based on 227 patients with nonsyndromic steroid-resistant nephrotic syndrome aged 10-20 years. Of these, 21% had a positive family history. Autosomal dominant cases were screened for WT1, TRPC6, ACTN4, and INF2 mutations. All other patients had the NPHS2 gene screened, and WT1 was tested in sporadic cases. In addition, 40 sporadic cases had the entire coding region of INF2 tested. Of the autosomal recessive and the sporadic cases, 13 and 6%, respectively, were found to have podocin-associated nephrotic syndrome, and 56% of them were compound heterozygous for the nonneutral p.R229Q polymorphism. Four percent of the sporadic and 10% of the autosomal dominant cases had a mutation in WT1. Pathogenic INF2 mutations were found in 20% of the dominant but none of the sporadic cases. In a large cohort of adolescents including both familial and sporadic disease, NPHS2 mutations explained about 7% and WT1 4% of cases, whereas INF2 proved relevant only in autosomal dominant familial disease. Thus, screening of the entire coding sequence of NPHS2 and exons 8-9 of WT1 appears to be the most rational and cost-effective screening approach in sporadic juvenile steroid-resistant nephrotic syndrome.