Publications by authors named "F Gurakan"
Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs.
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- - The study explored the link between FMF mutations and inflammatory bowel disease (IBD) in children, examining 597 pediatric patients with conditions like ulcerative colitis (UC) and Crohn's disease (CD).
- - Results revealed that 41.9% of patients had FMF mutations, with E148Q and M694V being the most common mutations associated with different types of IBD, and differences in disease characteristics were noted based on mutation types.
- - The findings suggested that while FMF mutations appeared relevant in UC (showing lower disease activity scores), they did not significantly affect the inflammatory response or clinical outcomes in patients with IBD overall, particularly those with CD.
Background: We aimed to investigate the relationship between human leukocyte antigens (HLA)-groups and clinical features, and degree of intestinal injury in children with celiac disease (CD).
Methods: Study group included 73 (50 females, 68.5%) children with CD.
Individuals with trisomy 21 have an 80% risk reduction of vascular anomalies compared with general population. However, an association of trisomy 21 and portal vascular and arteriovenous anomalies has been defined in the literature. The primary hemodynamic abnormality in portal hypertension is increased resistance to portal blood flow.
View Article and Find Full Text PDFUnlabelled: Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the newborn period between 1993 and 2015 at our center were retrospectively analyzed. Males and females were equally distributed; there was a history of parental consanguinity (n = 8) and first-degree relative with NPC (n = 3).
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